Establishing a Highly Efficient Detection System of Genetic Diagnosis and the Practical Database for the Taiwanese Marfan Syndrome by using PCR/DHPLC Assay
Date Issued
2007
Date
2007
Author(s)
Chang, Chien-Hui
Abstract
Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, and its cardinal manifestations involve the skeletal, ocular, and cardiovascular systems. According to the statistical series, its prevalence is between 1/5,000 ~ 1/20,000. We now know that MFS was caused by mutations of FBN1 （Fibrillin gene） at 15q21.1 was reported in 1991. Less frequently, MFS was caused by mutations of TGFBR2 （Transforming growth factor-β 2 receptor gene）at 3p24.1 was reported in 2004. This is named Marfan syndrome type II. In the thesis, we established a rapid and reliable detection system of genetic diagnosis and we constructed database including mutation site and polymorphism site for the Taiwanese patient with Marfan syndrome by using PCR/DHPLC assay. In this study, we decided the original DNA into two groups; one group had family history, including 22 families, and the other group did not have family history, including 43 cases. The result revealed that the data of DHPLC who compatible with the data of sequence, and the mutation detection rate of the cases with family history was 77.3%, and the mutation detection rate of the cases without family history was 32.6%. Comparing with the traditional technology of genetic diagnosis, for example, single strand conformation polymorphism（SSCP）or direct sequence, we demonstrated that the PCR/DHPLC assay was not only an efficient, accurate, reliable, and saving-money technique for the gene diagnosis but also set up the Taiwanese database of the Marfan syndrome to help people who work for the gene testing of FBN1 to saving money and valuable time .
Subjects
Taiwanese Marfan Syndrome
FBN1
TGFBR2
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