Genetic analysis of hemophilia in Taiwanese by using Long-Distance PCR and DHPLC
Date Issued
2005
Date
2005
Author(s)
Tseng, Su-Cheng
DOI
zh-TW
Abstract
Hemophilia A (HA) and hemophilia B (HB), with the deficiency of coagulation factor VIII (FVIII) and IX (FIX) respectively, represent the most common sex-linked inherited bleeding disorders in human. A wide range of different mutations have been identified including the intrachromosomal inversions involving regions in intron 1 and 22 of the FVIII gene as well as many mutation types found in the remaining part of the factor gene, sunch as large and small deletions, insertions, and point mutations. Patients suffering from those disorders and their families bear great financial and social burden, it is very important to prevent recurrence of the diseases. To achieve this goal genetic analysis for carrier screening and prenatal diagnosis is mandatory. We have established a diagnostic strategy consisting of screening for most common mutations in the Factors VIII and Factor IX genes by using long-distance polymerase chain reaction (LD-PCR)and denaturing high performance liquid chromatography (DHPLC). Forty-four affected Taiwanese families including 29 HA and 15 HB families were analyzed. We found eight novel point mutations in 6 HA families and 2 HB families together with two novel small deletion mutations in HA family.The intron 22 inverions in 13 HA families and the remaining mutations have been described previously in HA and HB mutation database. These small mutations were further confirmed by direct sequencing. Neither false positive nor false negative results were found. Our combinatory approach by subcycling LD-PCR and heteroduplex analysis based on DHPLC proves to be a highly informative, rapid and practical means to detect mutations in affected individuals and carriers of hemophilias.
Subjects
長片段聚合酶
連鎖反應
血友病
DHPLC
Taiwanese
hemophilia
LD-PCR
SDGs
Type
other
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