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1.
Mol Genet Genomics ; 2020 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-31897801

RESUMO

α-thalassemia is an inherited blood disorder commonly caused by deletions or point mutations involving one or both α-globin genes. Recent studies shed new light on the critical role of upstream enhancers multi-species conserved sequences (MCSs) in the ordered regulation of α-globin gene expression. Herein, we reported two unrelated probands with deletions in α-globin genes and MCSs, respectively. The proband from Family A is a compound heterozygote carrying a known α+ mutation (-α3.7) and a novel 60.2 kb deletion causing the absence of both α-globin genes. The proband from Family B, on the other hand, is a compound heterozygote with a known α0 mutation (--SEA) and a novel deletion involving only upstream regulatory elements MCS-R1, R2 and R3, while the α-globin genes remain intact. Notably, both these two patients suffered varied extent of anemia, indicating that the loss of enhancer elements could equally lead to reduced synthesis of α-globin. Upon these observations, we then confirmed the exact breakpoints of these two novel deletions using a targeted next-generation sequencing (NGS) previously established by our group, which may enable further elucidation of the rearrangement mechanisms on these deletions and functional dissection of MCSs. Taken together, our study reports a reliable NGS-based molecular screening approach for accurate identification of copy number variations (CNVs) in the α-globin cluster and the genetic diagnosis of these two probands may help to extend the spectrum of α-thalassemia mutations in Chinese population.

3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 980-984, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598940

RESUMO

OBJECTIVE: To develop a system for rapid detection of JAK2 V617F mutation among patients with myeloproliferative diseases. METHODS: Specific primers and TagMan probes were designed for the mutant and wild type alleles based on the principle of real-time PCR. A complete system including the method for detection and product for quality control were established through the evaluation of sensitivity and accuracy of the method, double-blind trial, and preparation of negative and positive controls through site-directed mutagenesis and molecular cloning. RESULTS: A system for rapid detection of the JAK V617F mutation has been developed. Compared with Sanger sequencing, the sensitivity and specificity of the method have both reached 100%. Meanwhile, 1000 normal samples and 1 case with the JAK2 V617F mutation were detected, which gave a population rate of 1‰. CONCLUSION: The system was fast, accurate, cheap, high throughput, and easy to use. It can be utilized as a routine test. Although the JAK2 V617F mutation is rare in the population, it should be screened among myeloproliferative neoplasm patients.


Assuntos
Janus Quinase 2/genética , Transtornos Mieloproliferativos/genética , Alelos , Análise Mutacional de DNA , Método Duplo-Cego , Humanos , Mutação , Reação em Cadeia da Polimerase em Tempo Real , Sensibilidade e Especificidade
4.
Adv Sci (Weinh) ; 6(11): 1802332, 2019 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-31179213

RESUMO

Noninvasive prenatal testing of common aneuploidies has become routine over the past decade, but testing of monogenic disorders remains a challenge in clinical implementation. Most recent studies have inherent limitations, such as complicated procedures, a lack of versatility, and the need for prior knowledge of parental genotypes or haplotypes. To overcome these limitations, a robust and versatile next-generation sequencing-based cell-free DNA (cfDNA) allelic molecule counting system termed cfDNA barcode-enabled single-molecule test (cfBEST) is developed for the noninvasive prenatal diagnosis (NIPD) of monogenic disorders. The accuracy of cfBEST is found to be comparable to that of droplet digital polymerase chain reaction (ddPCR) in detecting low-abundance mutations in cfDNA. The analytical validity of cfBEST is evidenced by a ß-thalassemia assay, in which a blind validation study of 143 at-risk pregnancies reveals a sensitivity of 99.19% and a specificity of 99.92% on allele detection. Because the validated cfBEST method can be used to detect maternal-fetal genotype combinations in cfDNA precisely and quantitatively, it holds the potential for the NIPD of human monogenic disorders.

5.
Brain ; 142(8): 2215-2229, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31199454

RESUMO

Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy exhibiting great clinical and genetic heterogeneity. Here, the identification of two heterozygous missense mutations in the C1orf194 gene at 1p21.2-p13.2 with Charcot-Marie-Tooth disease are reported. Specifically, the p.I122N mutation was the cause of an intermediate form of Charcot-Marie-Tooth disease, and the p.K28I missense mutation predominately led to the demyelinating form. Functional studies demonstrated that the p.K28I variant significantly reduced expression of the protein, but the p.I122N variant increased. In addition, the p.I122N mutant protein exhibited the aggregation in neuroblastoma cell lines and the patient's peroneal nerve. Either gain-of-function or partial loss-of-function mutations to C1ORF194 can specify different causal mechanisms responsible for Charcot-Marie-Tooth disease with a wide range of clinical severity. Moreover, a knock-in mouse model confirmed that the C1orf194 missense mutation p.I121N led to impairments in motor and neuromuscular functions, and aberrant myelination and axonal phenotypes. The loss of normal C1ORF194 protein altered intracellular Ca2+ homeostasis and upregulated Ca2+ handling regulatory proteins. These findings describe a novel protein with vital functions in peripheral nervous systems and broaden the causes of Charcot-Marie-Tooth disease, which open new avenues for the diagnosis and treatment of related neuropathies.

6.
Electrophoresis ; 40(16-17): 2165-2171, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30861170

RESUMO

Micro free flow electrophoresis (µFFE) is a valuable technique capable of high throughput rapid microscale electrophoretic separation along with mild operating conditions. However, the stream flow separation nature of free flow electrophoresis affects its separation performance with additional stream broadening due to sample stream deflection. To reduce stream broadening and enhance separation performance of µFFE, we presented a simple microfluidic device that enables injection bandwidth control. A pinched injection was formed in the reported µFFE system using operating buffer at sample flow rate ratio (r) setting. Initial bandwidth at the entrance of separation chamber can be shrunk from 800 to 30 µm when r increased from 1 to 256. Stream broadening at the exit of separation chamber can be reduced by about 96% when r increased from 4 to 128, according to both theoretical and experimental results. Moreover, the separation resolution for a dye mixture was enhanced by a factor of 4 when r increased from 16 to 128, which corresponded to an 80% reduction in sample initial bandwidth. Furthermore, a similar enhancement on amino acids separation was obtained by using injection control in the reported µFFE device and readily integrated into online/offline sample preparation and/or downstream analysis procedures.

7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 35(6): 787-790, 2018 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-30512146

RESUMO

OBJECTIVE: To establish a non-invasive method for beta-thalassemia by detecting parental CD41-42 mutation in cell-free DNA derived from maternal plasma with droplet digital PCR (ddPCR). METHODS: Beta-actin gene and beta-thalassemia gene CD41-42 mutation were respectively set as the reference and target sequences. A novel method was established based on Bio-Rad ddPCR technique with specific primers and TaqMan probes for the two genes. The accuracy, sensitivity and detective linearity range of the developed method were evaluated by detection of the target gene gradient concentration samples. The applicability was also evaluated by testing 20 maternal plasma samples. RESULTS: The ddPCR method could accurately detect the beta-thalassemia CD41-42 mutation in cell-free DNA derived from maternal plasma. Within the target sequence concentration ratio of 5.00%-0.50%, the relative errors were all < 0.05, the linear regression equation was Y=1.0101-X-0.0071 and R2=0.9994. The results of 20 maternal plasma cell-free DNA samples were all consistent with those of the follow-up testing. CONCLUSION: A ddPCR method for detecting parental CD41-42 mutation in cell-free DNA from maternal plasma was developed. The method is simple, rapid, accurate, and can be applied for non-invasive prenatal diagnosis for couples simultaneously carrying the CD41-42 mutation.


Assuntos
Ácidos Nucleicos Livres , Reação em Cadeia da Polimerase , Diagnóstico Pré-Natal/métodos , Talassemia beta/diagnóstico , DNA/sangue , Feminino , Humanos , Mutação , Gravidez , Talassemia beta/genética
8.
Nan Fang Yi Ke Da Xue Xue Bao ; 38(10): 1250-1254, 2018 Sep 30.
Artigo em Chinês | MEDLINE | ID: mdl-30377127

RESUMO

OBJECTIVE: To develop a rapid preimplantation genetic diagnosis method for α-thalassemia SEA deletion based on blastocyst cell whole genome amplification (WGA) combined with short fragment Gap-PCR. METHODS: Using multiple displacement amplification (MDA) WGA technique, we established a double-fluorescent PCR system of the housekeeping genes GAPDH and ß-actin for WGA quality testing, and a genotyping PCR system of mutant and normal short sequences for α-thalassemia SEA deletion. The sensitivity and accuracy of this method for diagnosis of α-thalassemia SEA deletion were evaluated by detecting lymphocyte samples containing different cell numbers from carriers of SEA deletion. The applicability of this method was evaluated by testing of 12 blastocyst biopsy samples. RESULTS: Detection of lymphocyte samples with different cell numbers using the method developed in this study revealed no ADO in 3-cell samples, and the product quantity of WGA became stable for 4-cell samples. Genotyping of the 10 blastocyst biopsy samples with successful WGA showed a genotype of --SEA/αα in 5 samples and αα/αα in the other 5 samples, which were consistent with the verification results. CONCLUSIONS: The method developed in this study is a complete testing process for 4-6 blastocyst biopsy cells to allow rapid, accurate, and cost-effective PGD genotyping of α-thalassemia SEA deletion using short fragment gap-PCR.


Assuntos
Blastocisto , Deleção de Genes , Reação em Cadeia da Polimerase/métodos , Diagnóstico Pré-Implantação/métodos , Deleção de Sequência/genética , Talassemia alfa/genética , Ásia Sudeste , Feminino , Estudo de Associação Genômica Ampla/métodos , Humanos , Gravidez , Sensibilidade e Especificidade , Talassemia alfa/diagnóstico
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 35(4): 553-556, 2018 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-30098255

RESUMO

OBJECTIVE: To analyze the genotype of a patient suspected for thalassemia through a series of experiments. METHODS: Conventional methods for detecting common thalassemia mutations was used in conjunction with multiplex ligation-dependent probe amplification (MLPA) in order to determine the genotype of the patient. Corresponding primers were designed for developing a Gap-PCR system for detecting rare type mutations. RESULTS: The patient was identified as a homozygote for Chinese Gγ(Aγδß)0-thal deletion, with clinical manifestations tending to be intermediate or severe based on the hematological characteristics. A Gap-PCR system has been developed for detecting the above mutation with accuracy and rapidity. CONCLUSION: The Chinese Gγ(Aγδß)0-thal is prevalent in southern China, and caution should be taken to avoid misdiagnosis. The Gap-PCR system for detecting Chinese Gγ(Aγδß)0-thal is suitable for extended applications for its simplicity and rapidity.


Assuntos
Talassemia/genética , Grupo com Ancestrais do Continente Asiático , China , Homozigoto , Humanos , Deleção de Sequência
10.
J Hum Genet ; 63(4): 407-416, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29440707

RESUMO

In this study, we aimed to assess the performance of two whole-genome amplification methods, multiple displacement amplification (MDA), and multiple annealing and looping-based amplification cycle (MALBAC), for ß-thalassemia genotyping and single-nucleotide polymorphism (SNP)/copy-number variant (CNV) detection using two DNA sequencing assays. We collected peripheral blood, cell lines, and discarded embryos, and carried out MALBAC and MDA on single-cell and five-cell samples. We detected and statistically analyzed differences in the amplification efficiency, positive predictive value, sensitivity, allele dropout (ADO) rate, SNPs, and CV values between the two methods. Through Sanger sequencing at the single-cell and five-cell levels, we showed that both the amplification rate and ADO rate of MDA were better than those using MALBAC, and the sensitivity and positive predictive value obtained from MDA were higher than those from MALBAC for ß-thalassemia genotyping. Using next-generation sequencing (NGS) at the single-cell level, we confirmed that MDA has better properties than MALBAC for SNP detection. However, MALBAC was more stable and homogeneous than MDA using low-depth NGS at the single-cell level for CNV detection. We conclude that MALBAC is the better option for CNV detection, while MDA is better suited for SNV detection.


Assuntos
Variações do Número de Cópias de DNA , Genômica , Genótipo , Polimorfismo de Nucleotídeo Único , Talassemia beta/diagnóstico , Talassemia beta/genética , Alelos , Linhagem Celular , Análise Mutacional de DNA , Genoma Humano , Genômica/métodos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação , Técnicas de Amplificação de Ácido Nucleico , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Análise de Célula Única , Globinas beta/genética
11.
EBioMedicine ; 23: 150-159, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28865746

RESUMO

Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed. We validated the assay by using 2522 subjects affected with hemoglobinopathies and applied it to carrier testing in a cohort of 10,111 couples who were also screened through traditional methods. In the clinical genotyping analysis of 1182 ß-thalassemia subjects, we identified a group of additional variants that can be used for accurate diagnosis. In the molecular screening analysis of the 10,111 couples, we detected 4180 individuals in total who carried 4840 mutant alleles, and identified 186 couples at risk of having affected offspring. 12.1% of the pathogenic or likely pathogenic variants identified by our NGS assay, which were undetectable by traditional methods. Compared with the traditional methods, our assay identified an additional at-risk 35 couples. We describe a comprehensive NGS-based test that offers advantages over the traditional screening/molecular testing methods. To our knowledge, this is among the first large-scale population study to systematically evaluate the application of an NGS technique in carrier screening and molecular diagnosis of hemoglobinopathies.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos , Técnicas de Genotipagem , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Sequenciamento de Nucleotídeos em Larga Escala , Adolescente , Adulto , Estudos de Casos e Controles , China/epidemiologia , Índices de Eritrócitos , Estudos de Associação Genética/métodos , Triagem de Portadores Genéticos , Testes Genéticos/métodos , Variação Genética , Genótipo , Geografia Médica , Hemoglobinopatias/epidemiologia , Hemoglobinas Anormais/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Pessoa de Meia-Idade , Fenótipo , Polimorfismo de Nucleotídeo Único , Vigilância da População , Prevalência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Adulto Jovem
12.
Hemoglobin ; 41(3): 189-192, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28950779

RESUMO

Thalassemia is the most common monogenic disease, with the highest incidence in Guangxi Zhuang Autonomous Region, People's Republic of China (PRC). The blood test result was not consistent with α-globin gene testing in one of the patients during daily screening. It was confirmed that there were multiple mutations at the α2-globin gene polyadenylation (polyA) signal site: HBA2: c.*64(T>C), HBA2: c.*68(A>C), HBA2: c.*71(G>A), HBA2: c.*74(C>A), HBA2: c.*82(G>A), HBA2: c.*92(A>G) and HBA2: c.*98(T>C) and compound - -SEA/αα by sequencing of the HBA1 and HBA2 genes of the proband and core family members. After that, we found a further two cases of unrelated patients with this type of mutation. The mutation is not an accidental phenomenon, and likely to occur with a considerable incidence in Guangxi Zhuang Autonomous Region, PRC. We analyzed the hematological manifestations of this type of thalassemia and showed that it was a Hb H (ß4) disease caused by rare mutations. We suggest that it is essential to pay attention to this mutation during future clinical diagnoses and genetic counseling of patients.


Assuntos
Hemoglobina H/genética , Mutação , Poli A/genética , Poliadenilação , alfa-Globinas/genética , Talassemia alfa/diagnóstico , Talassemia alfa/genética , Adulto , Alelos , Códon , Índices de Eritrócitos , Feminino , Frequência do Gene , Genótipo , Humanos , Análise de Sequência de DNA
13.
Nan Fang Yi Ke Da Xue Xue Bao ; 37(9): 1265-1269, 2017 Sep 20.
Artigo em Chinês | MEDLINE | ID: mdl-28951374

RESUMO

OBJECTIVE: To establish a rapid method for detection of alpha-globin gene αααanti-3.7 based on droplet digital PCR (ddPCR) technique. METHODS: The differential sequence between the X1 and Y1 box of α1 gene was selected as the amplicon of the target gene with ß-actin as the reference gene. The specific primers and TaqMan probes were designed, and then a quantitative method for detecting the copy number was established based on ddPCR technique. The sensitivity and accuracy of the method were evaluated by detecting 28 samples of known genotypes and 60 clinical samples. RESULTS: The ddPCR-based method accurately identified the genotypes of all the 28 samples with known genotypes and detected 5 cases of αα/αααanti-3.7 from the 60 clinical samples, and the results were verified by MLPA. The sensitivity and accuracy of this method were both 100% for detecting alpha-globin gene αααanti-3.7. CONCLUSION: This ddPCR-based method for detecting αααanti-3.7 triplet can be applied for population screening and in routine clinical molecular diagnosis with simple operation, rapid analysis and accurate results.

14.
Hemoglobin ; 41(3): 185-188, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28840763

RESUMO

A novel 811 bp deletion was first identified in two families of Nanning City, Guangxi Zhuang Autonomous Region, People's Republic of China (PRC). The molecular basis of this anomaly is a deletion from NG_000006.1: g.32945_33755, and is 20 bp upstream of the translation initiation codon of HBA2. From analyses of the blood indices of the two probands, the 811 bp deletion is an α+-thalassemia (α+-thal). This is the first report of this deletional thalassemia anywhere in the world.


Assuntos
Deleção de Sequência , alfa-Globinas/genética , Talassemia alfa/diagnóstico , Talassemia alfa/genética , Adulto , Alelos , China , Feminino , Genótipo , Humanos , Família Multigênica , Análise de Sequência de DNA
15.
Clin Chem Lab Med ; 55(3): 358-367, 2017 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-27754957

RESUMO

BACKGROUND: Spinal muscular atrophy (SMA) is mainly caused by deletions in SMA-related genes. The objective of this study was to develop gene-dosage assays for diagnosing SMA. METHODS: A multiplex, quantitative PCR assay and a CNVplex assay were developed for determining the copy number of SMN1, SMN2, and NAIP. Reproducibility and specificity of the two assays were compared to a multiple ligation-dependent probe amplification (MLPA) assay. To evaluate reproducibility, 30 samples were analyzed three times using the three assays. A total of 317 samples were used to assess the specificity of the two assays. RESULTS: The multiplex quantitative PCR (qPCR) assay had higher reproducibility. Intra-assay CVs were 3.01%-8.52% and inter-assay CVs were 4.12%-6.24%. The CNVplex assay had ratios that were closer to expected (0.49-0.5 for one copy, 1.03-1.0 for two copies, and 1.50-1.50 for three copies). Diagnostic accuracy rates for the two assays were 100%. CONCLUSIONS: The multiplex qPCR assay was a simple, rapid, and cost-effective method for routine SMA diagnosis and carrier screening. The CNVplex assay could be used to detect SMAs with complicated gene structures. The assays were reliable and could be used as alternative methods for clinical diagnosis of SMA.


Assuntos
Variações do Número de Cópias de DNA/genética , Marcadores Genéticos/genética , Atrofia Muscular Espinal/diagnóstico , Proteína Inibidora de Apoptose Neuronal/genética , Proteína 1 de Sobrevivência do Neurônio Motor/genética , Genótipo , Humanos , Reação em Cadeia da Polimerase Multiplex , Atrofia Muscular Espinal/genética , Reprodutibilidade dos Testes , Deleção de Sequência , Proteína 2 de Sobrevivência do Neurônio Motor/genética
16.
Nan Fang Yi Ke Da Xue Xue Bao ; 36(9): 1295-1298, 2016 08 20.
Artigo em Chinês | MEDLINE | ID: mdl-27687668

RESUMO

OBJECTIVE: To identify a rare α-thalassemia gene mutation in a family from south China and perform a pedigree analysis and genetic diagnosis of hemoglobin H (HbH) disease caused by this mutation. METHODS: Peripheral blood samples were collected from the family members for analysis of the hematological phenotype and routine test of thalassemia genes. DNA sequencing was carried out for samples that showed genotype and phenotype inconsistency. RESULTS: A rare α-thalassemia *92A>G gene mutation was detected within this family. The proband and his sister were confirmed to have non-deletional HbH disease with α--SEA/α*92A>Gα genotype. The proband's brother was confirmed to have an α-thalassemia trait with the genotype of -α3.7/α*92A>Gα. The proband's father was identified as an α-thalassemia silent carrier with the genotype of αα/α*92A>Gα. CONCLUSION: A rare α-thalassemia *92A>G gene mutation was identified for first time in south China. The description of the basic phenotypic characteristics of α-thalassemia trait and silent carrier caused by this mutation enriches the α-thalassemia gene mutation spectrum in Chinese population and helps in population screening, clinical molecular diagnosis and genetic counseling.


Assuntos
Genótipo , Talassemia alfa/genética , China , Análise Mutacional de DNA , Humanos , Masculino , Mutação , Linhagem
17.
J Med Genet ; 53(9): 624-33, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27247351

RESUMO

BACKGROUND: Dentin dysplasia I (DDI) is a genetically heterogeneous autosomal-dominant disorder characterised by rootless teeth with abnormal pulpal morphology, the aetiology of which presents as genetically heterogeneous. METHODS AND RESULTS: Using a cohort of a large Chinese family with 10 patients with DDI, we mapped to a 9.63 Mb candidate region for DDI on chromosome 18q21.2-q21.33. We then identified a mutation IVS7+46C>G which resulted in a novel donor splice site in intron 7 of the VPS4B gene with co-segregation of all 10 affected individuals in this family. The aberrant transcripts encompassing a new insert of 45 bp in size were detected in gingival cells from affected individuals. Protein structure prediction showed that a 15-amino acid insertion altered the ATP-binding cassette of VPS4B. The mutation resulted in significantly reduced expression of mRNA and protein and altered subcellular localisation of VPS4B, indicating a loss of function of VPS4B. Using human gingival fibroblasts, the VPS4B gene was found to act as an upstream transducer linked to Wnt/ß-catenin signalling and regulating odontogenesis. Furthermore, knockdown of vps4b in zebrafish recapitulated the reduction of tooth size and absence of teeth similar to the tooth phenotype exhibited in DDI index cases, and the zebrafish mutant phenotype could be partially rescued by wild-type human VPS4B mRNA. We also observed that vps4b depletion in the zebrafish negatively regulates the expression of some major genes involved in odontogenesis. CONCLUSIONS: This study identifies VPS4B as a disease-causing gene for DDI, which is one of the important contributors to tooth formation, through the Wnt/ß-catenin signalling pathway.


Assuntos
Adenosina Trifosfatases/genética , Displasia da Dentina/genética , Complexos Endossomais de Distribuição Requeridos para Transporte/genética , Mutação/genética , Processamento de RNA/genética , ATPases Associadas a Diversas Atividades Celulares , Animais , Grupo com Ancestrais do Continente Asiático/genética , Sequência de Bases , Feminino , Fibroblastos/metabolismo , Humanos , Masculino , Odontogênese/genética , Linhagem , Sítios de Splice de RNA/genética , RNA Mensageiro/genética , Via de Sinalização Wnt/genética , Peixe-Zebra/genética , beta Catenina/genética
19.
Hemoglobin ; 39(6): 448-50, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26291972

RESUMO

We present the first description of a Chinese family with a ß-thalassemia (ß-thal) mutation -86 (C > G) (HBB: c.-136C > G). This mutation changes the conserved promoter sequence within the proximal CACCC box of the ß-globin gene that leads to a phenotype of ß(+)-thal. The ß-globin haplotype analysis revealed that the -86 mutation in our case was linked with haplotype I [+ - - - - + +]. This haplotype was commonly found both in the ß-thal mutation and the ß(A) gene. Our results suggest that the -86 mutation possibly does not have a distinct origin.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Mutação , Globinas beta/genética , Talassemia beta/diagnóstico , Talassemia beta/genética , Adulto , Alelos , China , Índices de Eritrócitos , Família , Feminino , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Regiões Promotoras Genéticas
20.
Hemoglobin ; : 1-3, 2015 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-26270737

RESUMO

We present the first description of a Chinese family with a ß-thalassemia (ß-thal) mutation -86 (C > G) (HBB: c.-136C > G). This mutation changes the conserved promoter sequence within the proximal CACCC box of the ß-globin gene that leads to a phenotype of ß+-thal. The ß-globin haplotype analysis revealed that the -86 mutation in our case was linked with haplotype I [+ - - - - + +]. This haplotype was commonly found both in the ß-thal mutation and the ßA gene. Our results suggest that the -86 mutation possibly does not have a distinct origin.

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