Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation in a Chinese family affected with autosomal-dominant synpolydactyly and to provide the basis for prenatal diagnosis.</p><p><b>METHODS</b>Inheritance pattern was determined by clinical examination and pedigree analysis. Blood samples were obtained from members of the family. Genomic DNA was extracted and sequenced following PCR amplification. Suspected mutation was confirmed by subclone sequencing and agarose gel electrophoresis.</p><p><b>RESULTS</b>A 27 bp expansion mutation in exon 1 of HOXD13 was identified in all affected individuals from the family but not in unaffected members and normal controls. The mutation has caused insertion of 9 alanines in the polyalanine-expansion region of HOXD13 protein.</p><p><b>CONCLUSION</b>A polyalanine-expansion within the HOXD13 probably underlies the disease in this family.</p>

Analysis of gene mutation in a family featuring autosomal dominant May-Hegglin anomaly / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze clinical features and mutation in MYH9 gene for a family featuring autosomal dominant May-Hegglin anomaly.</p><p><b>METHODS</b>Clinical and pathological features of all family members were analyzed. Blood samples were collected from the proband and other family members, and genomic DNA was extracted. Potential mutations of MYH9 gene exons 10, 25, 26, 30, 38 and 40 were screened with PCR and direct sequencing. After a mutation was identified in the proband, other affected members as well as healthy members from this family were analyzed with a pair of primers to amplify the mutant site. The PCR products were digested with Taq I enzyme and analyzed with agarose gel electrophoresis.</p><p><b>RESULTS</b>All affected members had bleeding tendency and typical features including giant platelets, thrombocytopenia and characteristic Dohle body-like leukocyte inclusions. A heterozygous missense mutation c.5521G>A (p.Glu1841Lys) in exon 38 of the MYH9 gene was identified in all affected members from this family.</p><p><b>CONCLUSION</b>The variant, c.5521G>A (p.Glu1841Lys) of MYH9, has co-segregated with the phenotype in the family. The mutant site is a hot spot in Chinese population.</p>

Clinical and genetic analysis of a Chinese family affected with X-linked Charcot-Marie-Tooth disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the clinical manifestations and identify causative mutations for a Chinese family affected with X-linked Charcot-Marie-Tooth disease.</p><p><b>METHODS</b>Clinical, electrophysiological and pathological features of the family were carefully analyzed by neurologists. Blood samples were obtained from the proband and other family members. Genomic DNA was extracted. Mutation analysis of GJB1 gene was analyzed with PCR and direct sequencing.</p><p><b>RESULTS</b>The family has fit with X-linked inheritance, and the affected individuals have typical clinical manifestations. A c.614A>G (p.Asn205Ser) mutation was detected in the GJB1 gene in all affected individuals in the family.</p><p><b>CONCLUSION</b>A c.614A>G (p.Asn205Ser) mutation of GJB1 gene is co-segregated with the disease phenotype in this family and probably underlies the disease.</p>

Clinical effects of comprehensive rehabilitation therapy on patients with a diabetic foot / 中华物理医学与康复杂志

Objective To investigate the clinical effects of comprehensive rehabilitation treatment for patients with a diabetic foot. Methods Fifty-two patients with one diabetic foot were randomly divided into a rehabilitation group ( n =26 ) and a control group ( n =26).The patients in the control group received conventional treatment including health education,basic medical therapy and focal treatment of the foot.In addition to the conventional treatment,the rehabilitation group was treated with aerobic exercise,Beecher's exercise regimen,infrared therapy and ultrashortwave therapy 6 days a week for 4 weeks.The therapeutic effect and quality of life were evaluated before and after treatment. Results The effectiveness rate of the rehabilitation group was significantly higher than that of the control group ( 88.46％ vs 73.08％ ) after treatment.The quality of life scores in both groups were significantly better than those before treatment,including on the social relationship dimension,the physiological function dimension,the mental/psychology dimension and the therapy influence section.Average quality of life scores in the rehabilitation group had improved significantly more than in the control group. Conclusion Comprehensive rehabilitation is beneficial to prevent the progress of diabetic foot and to improve the quality of life of patients with a diabetic foot.

Gene mapping of a nonsyndromic hearing impairmint family / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To map the gene responsible for nonsyndromic hearing impairment in a consanguineous family.</p><p><b>METHODS</b>Firstly, X chromosome scanning was used to exclude X chromosome. Secondly, candidate gene analyzing and genome scanning were performed by homozygosity mapping. Then, additional markers flanking the tightly linked marker were tested to confirm linkage and decide the candidate region.</p><p><b>RESULTS</b>The nonsyndromic hearing impairment of this family was autosomal recessive. Twenty-five known genes were excluded. Autosomal genome scanning indicated that D17S1293 was tightly linked with disease gene. And further study mapped the disease gene to a 5.07 cM interval bounded by D17S1850 and D17S1818.</p><p><b>CONCLUSION</b>The disease gene of the family is mapped to a 5.07 cM interval between D17S1850 and D17S1818, which is a new locus of autosomal recessive nonsyndromic hearing impairment.</p>

Genomic structure of low density lipoprotein receptor related protein 5 gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the genomic structure of low density lipoprotein receptor related protein 5 (LRP5) gene.</p><p><b>METHODS</b>cDNA sequence encoding LRP5 was used to screen genomic clones containing LRP5 gene by computer hybridization approach. By comparing the cDNA sequence of LRP5 with the genomic sequences, the genomic structure of LRP5 was determined, and then it was conformed by amplifying and sequencing the sequences of exons and splicing junction.</p><p><b>RESULTS</b>The genomic sequence of LRP5 gene was 131.6 kb in length, containing 23 exons and 22 introns. Three single nucleotide polymorphisms were detected within the coding sequences of LRP5 gene, namely A459G in exon 2, C2220T in exon 10 and G4416C in exon 21. Four polymorphic markers, D11S1917, D11S4087, D11S1337 and D11S4178, located in the 5' flank sequence, introns 1, 4, and 13 of the LRP5 gene, respectively.</p><p><b>CONCLUSION</b>The characterization of genomic structure of LRP5 gene allows the investigators to detect disease-causing mutation within the gene and further study the function of LRP5 gene.</p>

The C677T mutation in the methylenetetrahydrofolate reductase gene and its association with deep vein thrombophilia in Shandong Hans / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the prevalence of methylenetetrahydrofolate reductase (MTHFR) C677T genotype and its association with deep vei n thrombophilia in Chinese.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was conducted to examine mutation with 63 deep vein thrombophilic patients and 80 health controls in Shandong Hans. The genotype frequencies were calculated by gene counting in patients and controls, and an analysis was made on the association of MTHFR C677T mutation with deep venous thrombosis in Shandong Hans.</p><p><b>RESULTS</b>In case- controls, the frequencies of C/T heterozygote were 41.27% and 43.75%; whereas those of T/T homozygote were 52.38% and 36.25%. Significantly elevated mutation was observed in patients(Chi-square=6.372, P 0.01 OR(T/T)=4.552 95% confidence interval:1.440-14.390, Chi-square =6.742 P=0.009).</p><p><b>CONCLUSION</b>The C677T mutation of methylenetetrahydrofolate reductase gene is a risk factor associated with deep vein thrombophilia in Shandong Hans.</p>

Linkage analysis of X-linked nuclear protein gene in Smith-Fineman-Myers syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the linkage between Smith-Fineman-Myers syndrome (SFMS) and X-linked nuclear protein(XNP) locus.</p><p><b>METHODS</b>Polymerase chain reaction and denaturing polyacrylamide gel electrophoresis were used to genotype two polymorphic short tandem repeats within XNP gene.</p><p><b>RESULTS</b>One of the two short tandem repeats was informative in SFMS family from Shandong, China. Recombination between SFMS locus and XNP gene was observed in the SFMS family.</p><p><b>CONCLUSION</b>XNP gene is not associated with the disease in the SFMS family from Shandong, China. SFMS exhibits locus heterogeneity at molecular level.</p>