[Carrier detection and prenatal diagnosis for hemophilia A].
OBJECTIVE
To establish a simple, rapid carrier detection and prenatal diagnosis system for hemophilia A.


METHODS
Intron 22 inversion in FVIII gene was directly examined by long distance polymerase chain reaction. Polymorphism of factor VIII intragenic RFLP of Bcl I, STR within intron 13 and 22, and extragenic DXS 52 (St 14) VNTR loci by hereditary linkage analysis were assayed.


RESULTS
The diagnostic rates of these loci were 47.6% (intron 22 inversion), 27.8% (Bcl I), 28.6% and 29.4% (STR within intron 13 and 22), and 81.3% (DXS52), respectively. The overall diagnostic rate in 21 families was 94.7%.


CONCLUSIONS
The diagnosis in hemophilia A patients or carriers can be made if intron 22 inversion is present. The intragenic and extragenic loci hereditary linkage analysis could be used to establish the diagnosis in intron 22 inversion negative patients.
Wang
X
X
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Liu
Y
Y
Li
Z
Z
Chu
H
H
Sang
X
X
Fan
Q
Q
Wang
H
H
D005169:Factor VIII / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007438:Introns; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D005169:Factor VIII