Effect of short-term high protein and low carbohydrate diet interventions in patients with obesity and hypertension / 中华健康管理学杂志

Objective:To determine the effect of short-term high protein and low carbohydrate diet interventions on weight-related metabolic indexes in obese patients with hypertension.Methods:A retrospective study was conducted on 200 obese patients with hypertension who underwent physical examination and weight management in Shenzhen People′s Hospital from May 2015 to December 2019. Among them, 100 patients were given routine diet education (control group), and 100 patients were given high protein and low carbohydrate diet interventions (experimental group). After eight weeks, changes in body weight, body mass index, blood pressure, fasting blood glucose, blood lipid, and medical expenses were compared. T-test and Wilcoxon rank sum test were used to compare the differences between the two groups before and after the interventions. When P<0.05, it was considered significantly different. Results:After the intervention, body weight, body mass index, systolic blood pressure, diastolic blood pressure, fasting blood glucose, total cholesterol, triglycerides, and medical expenses of the experimental group decreased [79.0 (74.0, 85.0) vs 70.0 (66.0, 72.0) kg; 28.5 (26.8, 29.5) vs 26.1 (25.4, 27.7) kg/m 2; 168.0 (162.0, 178.0) vs 160.0 (154.0, 166.0) mmHg(1 mmHg=0.133 kPa); 101.0 (98.0, 108.0) vs 97.0 (90.5, 98.0) mmHg; 5.25 (4.80, 5.52) vs 4.95 (4.70, 5.20) mmol/L; 5.80 (5.27, 6.40) vs 5.40 (5.00, 5.80) mmol/L; 1.25 (0.90, 1.50) vs 1.10 (0.90, 1.20) mmol/L;(669.6±21.6) vs (646.4±21.3) CNY, respectively] (all P<0.05). The body weight of the control group decreased [78.0(73.3, 83.0) vs 79.5(74.5, 85.0) kg] ( P<0.05). The control group′s body mass index, systolic blood pressure, diastolic blood pressure, fasting blood glucose, total cholesterol, triglycerides, and medical expenses had no significant changes (all P>0.05). Conclusion:Short-term, high protein, low carbohydrate diet intervention can effectively reduce weight, hypertension, fasting blood glucose, total cholesterol, triglycerides, and medical expenses in obese patients with hypertension.

Microcephaly-seizures-development delay syndrome in a pedigree: genetic analysis and literature review / 中华围产医学杂志

Objective:To analyze the phenotypes and genetic etiology of microcephaly- seizures-development delay (MCSZ) syndrome.Methods:The patient was diagnosed with MCSZ syndrome in June 2018 at Shenzhen Maternity and Child Healthcare Hospital. She was the couple's first child, and the mother conceived a second child in 2020. The clinical data of the proband were retrospectively analyzed, and the bioinformatics analysis and whole-exome sequencing (WES) were performed on the proband and her parents to identify the pathogenic variants, which were further validated using Sanger sequencing. The prenatal genetic diagnosis of the second fetus was performed following the molecular diagnosis of the proband was confirmed. The clinical manifestations and pathogenesis of MCSZ syndrome were summarized by reviewing related literature.Results:(1) Case report: The patient, an eight-month-old girl, was admitted to our hospital due to microcephaly and repeated seizures. Another clinical characteristic was mental retardation. Auditory evoked potential detected moderate impairment of the left auditory nerve pathway. WES showed a compound heterozygous variation in the PNKP gene of the proband. Moreover, the pathogenic variation, c.199-10_203delinsTCTGAGGGGT, was inherited from the father, and the likely pathogenic variation, c.1505C>T(p.P502>L), was inherited from the mother, which was both de novo mutations. The compound heterozygous variation in the PNKP gene was considered genetic etiology based on the genetic testing and clinical features. Prenatal diagnosis showed that the second fetus did not inherit the PNKP gene variants from the parents and the couples chose to continue the pregnancy. A girl was born, and her psychomotor development and occipitofrontal size circumference were normal at 13 months old. (2) Literature review: 39 MCSZ syndrome cases were retrieved, including the present case and 38 cases from 12 relevant literature. The clinical characteristics were microcephaly (91.7%, 33/36), seizures (88.2%, 30/34), development delay (96.4%, 27/28), hyperactivity (25.6%, 9/39), gastroesophageal reflux (10.3%, 4/39), and hearing loss (7.7%, 3/39). Most patients' first onset of epilepsy was in infancy (96.3%, 26/27). Cranial MRI examination showed brain dysplasia in 31 cases (91.2%, 31/34). Conclusions:When the fetal head circumference is smaller than normal and is progressively reduced combined with postnatal microcephaly, epilepsy, developmental retardation, hyperactivity disorder, gastroesophageal reflux, and hearing loss, MCSZ syndrome should be considered. The prognosis varies widely, and genetic testing facilitates the early diagnosis and genetic counseling of MCSZ syndrome.

Evaluation of quantitative stool occult blood test in opportunistic screening for colorectal cancer / 中华健康管理学杂志

Objective:To evaluate the efficacy of quantitative fecal immunochemical test (fecal immunochemical test, FIT) in the screening of colorectal cancer and precancerous lesions.Methods:47 243 patients who underwent quantitative FIT screening for colorectal cancer in the Health Management Department of Shenzhen People′s Hospital from January 2019 to October 2020 were enrolled as subjects. Colonoscopy was recommended for patients with positive quantitative FIT. A follow-up was done after one year to compare the results of the quantitative FIT positive group and the negative group after colonoscopy. Data were adjusted by propensity score matching method and a receiver operating characteristic curve ( ROC) was established to evaluate the diagnostic effect of quantitative FIT combined with colonoscopy on colorectal cancer and precancerous lesions. Results:A hemoglobin concentration>100 μg/L was set as a positive threshold. There were 2 472 positive cases of quantitative FIT, and the positive rate was 5.23%. After one-year follow-up, 284 patients had completed colonoscopy; the colonoscopy compliance was 11.49%. Of the negative population, 1 493 patients selected colonoscopy within one year. Compared with the results of gold standard colonoscopy, the sensitivity and specificity of quantitative FIT for screening for advanced adenoma and cancer were 26.53% and 86.54%, respectively. The sensitivity for colorectal cancer screening was 94.44% and screening for advanced adenoma was 22.77%. After propensity score matching, there were 256 FIT positive patients and 705 FIT negative patients. Colorectal cancer was the outcome variable, while FIT combined with colonoscopy, age combined with colonoscopy, and FIT combined with age combined with colonoscopy were the diagnostic indicators. The areas under the curve were 0.841(95% CI:0.778-0.904), 0.677(95% CI: 0.535-0.820), and 0.882(95% CI:0.807-0.958), respectively. Conclusion:Quantitative FIT has a high susceptibility to opportunistic screening for colorectal cancer, and a low sensitivity to advanced adenoma. At the same time, quantitative FIT combined with colonoscopy has a good diagnostic accuracy for colorectal cancer, which is better than the effect of using age as a cut-off point for colonoscopy. Quantitative FIT combined with age and colonoscopy has the best effect on screening for colorectal cancer. Quantitative FIT has a high sensitivity to colorectal cancer and a low sensitivity to advanced adenoma.

Evaluation of the effect of remote lifestyle intervention on the management of weight and related indicators in the overweight and obese population / 中华健康管理学杂志

Objective:To evaluate the effect of remote lifestyle intervention on the management of weight and related indicators in the overweight and obese population.Methods:A total of 400 individuals with overweight or obesity who participated in remote lifestyle intervention in the Health Management Department of Shenzhen People′s Hospital from May 2015 to December 2018 were included as the remote intervention group, and 400 individuals with overweight and obesity who matched their age and gender were selected as the control group. Dietician established individual WeChat groups with the remote intervention group, and the WeChat platform was used to conduct remote lifestyle intervention for them, including setting weight control goals, giving timely feedback to the food log based on photos, providing exercise guidance and psychological support. The control group received personalized diet and exercise prescriptions, but did not receive remote intervention. After adjusting the data by propensity score matching method, univariate and multivariate logistic regression models were used to analyze the management effect of weight and related indicators in the two groups after one year.Results:After one year of intervention, effective data were obtained from a total of 755 cases (371 cases in the remote intervention group and 384 cases in the control group), and effective data were retained from 446 cases (223 cases in the remote intervention group and 223 cases in the control group) after bias matching. The body mass index (BMI), systolic blood pressure, fasting blood glucose, triglyceride, total cholesterol, low-density lipoprotein, and serum uric acid of the remote intervention group [(24.85±2.52) kg/m 2, (110.21±10.53) mmHg, (4.96±0.65) mmol/L, (1.25±0.82) mmol/L, (4.87±1.11) mmol/L, (2.88±0.74) mmol/L, and (306.01±95.66) mmol/L respectively] were significantly lower than that of the control group [(27.76±2.28) kg/m 2, (121.14±14.07) mmHg, (5.10±0.87) mmol/L, (1.54±0.83) mmol/L, (5.28±0.96) mmol/L, (3.13±0.80) mmol/L, (355.16±92.68) mmol/L respectively] (all P<0.05). After intervention, intervention was consistently being influencing factors when BMI was reduced by 4%―12%, ( P<0.05). The probability of a 12% reduction in BMI in the remote intervention group was 112.486 times higher than that in the control group (95% CI: 16.852-890.266). At the same time, the initial BMI was an influential factor for the restoration of normal BMI. For every 1 kg/m 2 decrease in the initial BMI, the probability of restoration of normal BMI was 4.76 times higher than that before the decrease (95% CI: 3.222-5.057). Conclusions:Remote lifestyle intervention has a certain effect on the management of weight and related indicators in the overweight and obese populations. It has significant effect on weight loss of overweight and mildly obese people, but has limited effect on moderate and severe obese people.

Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology for a newborn with corneal opacity.@*METHODS@#The neonate and her parents were subjected to routine G-banding chromosomal karyotyping analysis. Copy number variation (CNV) was analyzed with low-coverage whole-genome sequencing (WGS) and single nucleotide polymorphism microarray (SNP array).@*RESULTS@#No karyotypic abnormality was found in the newborn and her parents. Low-coverage WGS has identified a de novo 5.5 Mb microdeletion at chromosome 8q21.11-q21.13 in the neonate, which encompassed the ZFHX4 and PEX2 genes. The result was confirmed by SNP array-based CNV analysis.@*CONCLUSION@#The newborn was diagnosed with chromosome 8q21.11 deletion syndrome. ZFHX4 may be one of the key genes underlying this syndrome.

Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a family affected with congenital heart defects.@*Methods@#G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus.@*Results@#G-banding karyotyping showed the patient was 45, XY, rob(15; 21)(q10; q10)[36]/46, XY[64], while the fetus had an normal karyotype. CMA revealed that both had arr[hg19]8p23.1(11 232 919-11 935 465)×1. MLPA showed both had deletion of all exons of the GATA4 gene.@*Conclusion@#The LVNC of the patient and the ventricular septal defect(VSD) of his fetus may result from the same 8p23.1 deletion, for which GATA4 is probably the key gene.

Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a family affected with congenital heart defects.@*METHODS@#G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus.@*RESULTS@#G-banding karyotyping showed the patient was 45,XY,rob(15;21)(q10;q10)[36]/46,XY[64], while the fetus had an normal karyotype. CMA revealed that both had arr[hg19]8p23.1(11 232 919-11 935 465)×1. MLPA showed both had deletion of all exons of the GATA4 gene.@*CONCLUSION@#The LVNC of the patient and the ventricular septal defect(VSD) of his fetus may result from the same 8p23.1 deletion, for which GATA4 is probably the key gene.

Genetic analysis and prenatal diagnosis for ten families affected with tuberous sclerosis complex / 中华医学遗传学杂志

OBJECTIVE To provide prenatal diagnosis for families affected with tuberous sclerosis complex and explore the correlation between phenotype and genotype. METHODS For probands from 10 families, all exons and splicing regions of the TSC1 and TSC2 genes were analyzed with high throughput DNA sequencing. Suspected mutations were verified by Sanger sequencing. RESULTS All probands were found to have mutations, which included 1 case with TSC1 mutation and 9 cases with TSC2 mutations (missense mutations in 6, nonsense mutations in 2, and frameshifting mutation in 1 case). Prenatal diagnosis was provided for 9 cases, and 1 fetus was found to carry a mutation. Genetic analysis has identified a novel pathogenic mutation (TSC2 c.2415-2416 ins GT). CONCLUSION Identification of pathological mutations for tuberous sclerosis complex can facilitate genetic counseling and prenatal diagnosis for the affected families.

Application of low molecular weight heparin combined with psychological intervention in prevention of deep venous thrombosis after lower limb fracture surgery / 中国生化药物杂志

Objective To study the clinical application of low molecular weight heparin combined with psychological intervention in the prevention of deep venous thrombosis after lower limb fracture surgery.Methods 100 patients with lower limb fracture treated in our hospital from January 2013 to December 2016 were selected as the research object in the course of the study, and randomly divided into control group and experimental group, with 50 cases in each group,.The patients in control group were treated with routine lower limb physical pressure to prevent deep venous thrombosis after lower limb fracture.The patients in the experimental group were treated with low molecular heparin combined with psychological intervention to prevent deep vein thrombosis after lower limb fracture.Comparative analysis of patients with prothrombin time and platelet and the experimental group and the control of activated partial thromboplastin time index.Results After different treatment, the platelet index of the experimental group was(189.23±36.23)×109 /L, significantly better than that of the control group(264.34±39.56)×109/L,the difference was statistically significant(P<0.05).After treatment, the patients in the experimental group the activated partial thromboplastin time and prothrombin time index respectively(35.62±4.23)s and(16.12±2.19)s, significantly better than the control group, the difference was statistically significant(P<0.05).Conclusion low molecular weight heparin combined with application of psychological intervention in prevention of deep venous thrombosis after lower limb fracture surgery, can improve clinical curative effect on prevention of deep vein thrombosis in a large extent, improve blood hypercoagulable state of patients after surgery, with further clinical promotion and application significance.

Analysis of a mistake occurring during prenatal diagnosis of two couples respectively carrying CD41-42 (-TCTT) and CD43(G>T) mutations of the beta hemoglobin gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To provide prenatal diagnosis for two couples who respectively carried heterozygous CD41-42 (-TCTT) and CD43 (G>T) mutations of the beta hemoglobin gene.</p><p><b>METHODS</b>The mutations were simultaneously detected with reverse dot blot (two diagnostic kits), multi-color melting curve analysis and sequencing analysis.</p><p><b>RESULTS</b>The fetus of family 1 was shown to be heterozygous for CD43 (G>T) by the three methods, while the fetus of family 2 was shown to be double heterozygous for CD41-42 (-TCTT) and CD43 (G>T) by multi-color melting curve analysis and sequencing analysis. The two diagnostic kits yielded different results by reverse dot blot, one as double heterozygous for CD41-42 (-TCTT) and CD43 (G>T), and another as homozygous for CD41-42 (-TCTT).</p><p><b>CONCLUSION</b>For prenatal diagnosis of couples carrying mutations of beta hemoglobin gene such as CD41-42 (-TCTT) and CD43 (G>T), other methods such as Sanger sequencing should be used in order to avoid misdiagnosis.</p>

The application of multicolor probe melting curve analysis for the prenatal diagnosis ofβthalassemia / 中华检验医学杂志

Objective To establish a method of multicolor melting curve analysis for the prenatal diagnosis ofβthalassemia.Methods Methodology establishment.A total of 95 cases, including 9 fetal villi samples(10-13 weeks)and 86 amniotic fluid samples(18-24 weeks)were collected by Center for Prenatal Diagnosis of Shenzhen Maternity and Child Healthcare Hospital between January 2014 and December 2014.A double-blind test was done to detect the mutations of beta globin gene by means of reverse dot ( RDB) blot and multicolor melting curve analysis ( MMCA).The consistency of the two methods is compared.Results The results of 93 cases detected by MMCA and RDB are completely consistent.The results of the 2 cases detected by MMCA after correction are the same as the results detected by RDB.Finally, the coincidence rate of the result was 100%.Conclusion MMCA can be applied to the prenatal diagnosis ofβthalassemia as an effective supplement to RDB.

Infection distribution and drug resistance of Acinetobacter baumannii / 国际检验医学杂志

Objective To study the clinical distribution and drug resistance of Acinetobacter baumannii (AB) .Methods Clinical distribution and drug resistance of 1 190 strains of AB ,isolated in 2012 and 2013 ,were retrospectively analyzed .Results Most of AB strains were isolated from sputum ,and mainly from Intensive Care Unit ,Department of Neurosurgery and Department of Re‐spiratory .Resistance rates of AB to most antimicrobial agents were 60% -80% .Resistance rate to tobramycin ,piperacillin/tazobac‐tam and imipenem was increased significantly .Resistance rate to cefoperazone/sulbactam was decreased .Conclusion Drug resist‐ance of AB might be serious ,with increasing tendency .

Association of FOXE1 gene polymorphism with idiopathic premature ovarian failure / 中华妇产科杂志

Objective To assess the influence of length of the alanine tract of forkhead box E1 (FOXE1) gene on genetic susceptibility to idiopathic premature ovarian failure (POF). Methods Totally 110 patients with idiopathic POF were recruited between February 2009 and December 2012 at the Affiliated Shenzhen City Maternity and Child Healthcare Hospital of Southern Medical University. Controls (n=110) were individuals with normal menstrual cycles, normal FSH concentrations. The polyalanine tract and flanking sequence of FOXE1 were screened using the multiplex ligation-dependent probe amplification (MLPA) technique and direct sequence technique. Results The most frequent of FOXE1 polyalanine stretch length was 14 residues in both groups. The length of FOXE1 polyalanine reported in this study varied from 12 to 16 alanines, and three variants of FOXE1-polyalanine length, containing 12, 14, or 16 alanine residues, and 5 different genotypes were identified. The most common genotypes were 14/14 homozygote, occurring with the frequency of 81.8% (90/110) in the POF group, while 96.4% (106/110) in control subjects, respectively. The incidence of 14/14 genotypes of FOXE1-polyalanine was significantly lower in patients with POF (χ2=119.730, P=0.001) in comparison to the controls. There were significantly higher frequencies of the 16/16 genotypes in cases with POF [10.0% (11/110) versus 0; χ2=3.403, P=0.001], as compared with the controls. The FOXE1 14 alanine allele was significantly less common in the POF patient group than the controls [84.5% (186/220) versus 98.2% (216/220); χ2=25.923, P=0.001]. The FOXE1 16 alanine allele was significantly more common in the POF patient group than the controls [12.7% (28/220) versus 1.8% (4/220); χ2=19.412, P=0.001]. Conclusions The polymorphism of the polyalanine tract of FOXE1 gene have a certain relevance for the genetic aetiology of idiopathic POF.

Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations / 中华儿科杂志

<p><b>OBJECTIVE</b>To confirm the genetic diagnosis for providing services for genetic counseling and prenatal diagnosis, we analyzed the clinical and genetic data of a pedigree which is clinically diagnosed as Joubert syndrome.</p><p><b>METHOD</b>A Joubert syndrome pedigree was enrolled as subject of this study from our hospital's outpatients in 2013. Following the medical history collection of the proband and the suffering fetus, target sequence capture and the next-generation sequencing technology were used for the proband and the suffering fetus to find the causative genes and sanger sequencing for the members of the pedigree to check and verify if the inherited mutations are in accordance with the Mendelian inheritance. Combining the clinical symptoms and signs with the total testing results, we analyzed the Joubert syndrome pedigree clinically and genetically.</p><p><b>RESULT</b>The proband showed abnormal respiratory patterns (neonatal tachypnea) and hypertonia without abnormal eye movements, and reflected the molar tooth sign on the magnetic resonance imaging. And afterwards the patient developed hypotonia, ataxia, growth and intellectual disability accompanied by congenital blepharoptosis. There were no any symptoms and signs of liver, kidney and eyesight abnormalities so far. The affected fetus showed hydrocephalus by the auxiliary examination during the second trimesters of pregnancy without any appearance deformities. Both the proband and the affected fetus carried a missense mutation of CC2D2A gene c.2999A > T (p.Glu1000Val) from their father and carried the deletion of exon 20-21 on the same gene. Both variations were confirmed to be the Mendelian genetic compound heterozygous pattern. Whereas, the missense mutations c.2999A > T (p.Glu1000Val) on the CC2D2A gene have been proved to be inherited from the proband's father and the proband as well as the affected fetus. However, the proband's mother was normal at this locus of CC2D2A gene. The missense mutations c.2999A >T (p.Glu1000Val) have been confirmed to accord with Mendelian inheritance.</p><p><b>CONCLUSION</b>The Joubert syndrome patient may show hypertonia in the early postnatal days as a result of hydrocephalus during the second and third trimesters of pregnancy besides manifesting hypotonia, ataxia, growth and intellectual disability markedly with age accompanied by the congenital blepharoptosis and revealing the molar tooth sign on the magnetic resonance imaging, considering the medical history and the whole testing results, the compound heterozygous mutations of c.2999A > T (p.Glu1000Val) and deletion of exon 20-21 of CC2D2A gene in the pedigree may be the causal gene mutations.</p>

Telemedicine service at tertiary hospitals / 中华医院管理杂志

An introduction to the telemedicine service of the hospital in its web-based hospitalprogram which covers theweb-based healthcare center,and thehealthcare cabin to interact with the center remotely.The center operates on the telehealth management platform based on cloud computing, offering remote monitoring,health assessment,health management,follow-up,online consultation,pre-registration and mobile payment.Theweb-based hospitalcan simplify the medical service flow,alleviate the complaints incurred by concentrated quality medical resources,influx of patients and limited physical space of tertiary hospitals,and the tense doctor-patient relationship as well.

Genetic and prenatal diagnosis for a Chinese family with primary carnitine deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation of SLC22A5 gene in a 5-month-old boy affected with primary carnitine deficiency and provide genetic counseling and prenatal diagnosis for the members of his family.</p><p><b>METHODS</b>DNA was extracted from peripheral blood samples derived from the proband, his parents and elder sister, as well as amniotic fluid from his pregnant mother. All of the 10 exons of the SLC22A5 gene were amplified by PCR and subjected to Sanger sequencing. The amniotic fluid sample was also subjected to G-banded karyotyping and multiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>A homozygous mutation c.760C>T (p.R254X) of the SLC22A5 gene was detected in the proband. Heterozygous mutation c.760C>T (p.R254X) was also found in other family members including the fetus. The karyotyping and chromosomal microdeletion testing for the amniotic fluid sample were both normal.</p><p><b>CONCLUSION</b>The newly identified homozygous nonsense c.760C>T (p.R254X) mutation of the SLC22A5 gene probably underlies the primary carnitine deficiency of the proband. Genetic counseling and prenatal diagnosis have been provided for this family.</p>

Application of multiplex ligation-dependent probe amplification technique in prenatal diagnosis of α-thalassemia / 中华医学遗传学杂志

OBJECTIVE To assess the application value of multiplex ligation-dependent probe amplification (MLPA) for the detection of gene deletion and prenatal diagnosis of α-thalassemia. METHODS MLPA was applied for 2 cases with α-thalassemia phenotype by whole blood cell counting and hemoglobin component detection but were ruled out by regular molecular diagnosis. Potential gene deletions and point mutations of α-thalassemia gene were detected with regular Gap-polymerase chain reaction (Gap-PCR) and reverse dot blotting (RDB) in 89 cases where one or both partners were carriers of α-thalassemia mutations. Meanwhile, MLPA was used for detecting α-globin gene deletion among the 89 samples. RESULTS For the 2 cases with α-thalassemia phenotype, no α globin gene deletion was detected by MLPA, but were subsequently confirmed as iron-deficiency anemia. The results of MLPA and Gap-PCR detection for the 88 cases were consistent, except for 1 fetal sample (chorionic villi) which could not be diagnosed by Gap-PCR and was confirmed to be - SEA/αα by MLPA. CONCLUSION MLPA can be applied to prenatal diagnosis of α-thalassemia as an effective supplement to Gap-PCR to reduce both misdiagnosis and missed diagnosis and improve the accuracy of prenatal diagnosis.

Genetic analysis for a family with Cockayne syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutations among three sisters from a Chinese family suspected with Cockayne syndrome for growth and psychomotor retardation, and to offer genetic counseling and prenatal diagnosis for the family.</p><p><b>METHODS</b>G-banded karyotyping, microarray comparative genomic hybridization (CM-CGH), whole genome exon high-throughput sequencing and Sanger sequencing were employed to identify potential genetic variations for the three patients and their parents.</p><p><b>RESULTS</b>Whole exome sequencing has identified two novel missense mutations, i.e., c.1595A>G (p.Asp532Gly) and c.1607T>G (p.Leu536Trp), in exon 7 of excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6) gene. Sanger sequencing confirmed that all of the three sisters have inherited one of the mutations (c.1607T>G) from their father and another (c.1595A>G) from their mother.</p><p><b>CONCLUSION</b>Three sisters have all been identified as double heterozygote for mutations c.1607T>G and c.1595A>G and were diagnosed with Cockayne syndrome.</p>

A novel mutation in GCH1 gene causes dopa-responsive dystonia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation of the GCH1 gene in a Chinese family affected with dopa-responsive dystonia.</p><p><b>METHODS</b>Genomic DNA of patients was extracted from peripheral blood samples. The 6 exons of the GCH1 gene and at least 100 bp of flanking intronic sequences were amplified with PCR. Potential mutations were screened by direct sequencing. Identified mutation was verified with denaturing high performance liquid chromatography (DHPLC) in 100 healthy controls.</p><p><b>RESULTS</b>All patients were found to be heterozygous for a novel c.597delT (p.Ala200LeufsX5) deletion in the exon 5 of the GCH1 gene. The deletion of T has resulted in formation of a shorter (203 amino acids) truncated non-functional guanosine triphosphate cyclohydrolase I. The same mutation was not found in the 100 controls.</p><p><b>CONCLUSION</b>A novel GCH1 gene frameshifing mutation probably underlies the dopa-responsive dystonia in this Chinese family.</p>

Application of array-CGH and MLPA for detection of 4 cryptic unbalanced translocations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To use array comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) to detect unbalanced rearrangements in 4 cases suspected to have chromosome disease but were undetected with conventional karyotype analysis, and to assess the applicability of array-CGH and MLPA for detection of unbalanced translocation.</p><p><b>METHODS</b>Genomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and subtelomeric MLPA.</p><p><b>RESULTS</b>All of the cases were identified to have unbalanced translocations by array-CGH analysis, among which 3 were consistent with subtelomeric MLPA analysis. For the remaining one, its chromosomal abnormality was not detected by MLPA as the imbalance has occurred outside of target regions.</p><p><b>CONCLUSION</b>Both array-CGH and MLPA techniques can complement conventional karyotyping for detecting unbalanced translocations. The combination features both high resolution and efficiency for clinical use.</p>