|
KMID : 0358419940370122362
|
|
Korean Journal of Obstetrics and Gynecology
1994 Volume.37 No. 12 p.2362 ~ p.2368
|
|
|
Analysis of Bcll and Xbal Intragenic Polymorphism of Factor VIII Gene in Korean Patients with Hemophilia A and their Mothers
|
|
최영민
황도영/최진/구승엽/김석현/신창재/김정구/문신용/이진용
|
|
|
Abstract
|
|
|
Hemophilia A is one of the most common inherited bleeding disorders in humans. Resulting from heterogenous collection of mutations in the fator VIII gene. With the molecular cloning of the human gene for factor VIII, intragenic polymorphic DNA
sequences
have been described and these sequences are currently used for accurate identfication of carriers and for prenatal diagnosis, usually by radioactive Southern blot analysis which is costly and labor intensive. The recent development of polymerase
chain
reaction provides a more rapid and nonradioactive technique for the carrier-detection and prenatal diagnosis.
To identify the clinically useful markers that can be used for the carrier-detection and prenatal diagnosis, we analysed the BciI and XbaI intragenic polymorphism of factor VIII gene in 23 Korean patients with hemophilia A and their mothers using
polymerase chain reaction(PCR).
BciI intragenic polymorphism was informative in 4 (17.4%) families among 23 families tested, while XbaI intragenic polymorphism was informative in one (4.3%) family among those families, In some mothers of the patient, analysis of XbaI
polymorphism
was
not possible by digestion because of the background bands that interfere with interpretation.
These data indicated that PCR-based analysis of BciI intragenic polymorphism is a clinically useful method for the carrier-detection and for prenatal diagnosis of hemophilia A in Korean patients.
|
|
|
KEYWORD
|
|
|
|
|
|
FullTexts / Linksout information
|
|
 
|
|
|
Listed journal information
|
|
  
|