|
KMID : 0384119930130030363
|
|
Korean Journal of Clinical Pathology
1993 Volume.13 No. 3 p.363 ~ p.372
|
|
|
Detection of Factor IX Gene Mutation and Carriers in Korean Hemophilia B Patients by DNA Sequencing
|
|
|
|
|
Abstract
|
|
|
DNA-based carrier detection and prenatal diagnosis are rapidly expanding medical application of the molecular biologic methods. Now there are two DNA-based methods for hemophilia B carrier detection, one is the linkage analysis of
RFLP(restriction
fragment length polymorphism) and the other is the direct sequencing of factor Ⅸgene. Direct diagnosis shows greater accuracy than RFLP analysis which has some commonly overlooked uncertainties and limitations and it can offer 100% precise
genetic
counselling compared to the level of 50-60% attainable by RFLP. Here, we have delineated mutaions in four unrelated severe hemophilia B patients by direct sequencing of eight regions of likely functional significance in the factor Ⅸ gene. Each
hemophiliac has different mutation occurred in exon E, promotor region, and exon H A C to T transition at nueleotide 17704 changes codon 97 from Gln to a stop codon(KHB4). A G to C transversion at 17747 changes codon 111 from Cys to Ser(KHB 4). A
G
to A
transition at 31308 changes codon 396 from Gly to Glu(KHB 5). An A to G transition at 13 in the promotor region is the variant previously described as hemophilia BLeyden(KHB 2). The mutations shown in KHB 1, 4, 5 patients are the novel point
mutations
of the factor Ⅸgene. With these data, we successfully performed the carrier testing in family members of the patients.
|
|
|
KEYWORD
|
|
|
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|