[Analysis of X ba I polymorphism of FVIII gene and its application on prenatal diagnosis for hemophilia A].
OBJECTIVE
To establish the linkage methods of X ba I polymorphisms specific for FVIII gene intron 22, and to find a rapid and simple system for haemophilia A (HA) carrier detection and prenatal diagnosis.


METHODS
A long PCR to amplify FVIII gene intron 22 followed by X ba I digestion was used to assay the gene rate and heterozygosity rate of 206 unrelated people. Detection of intron 22 inversion by long distance PCR (LD-PCR) and XbaI, BclI, Hind III, DXS52, STR polymorphism within intron 13 and 22 by hereditary linkage analysis were assays in 20 HA pedigrees.


RESULTS
The gene rate and polymorphism information contents of 206 people were 0.5475 and 0.4955 respectively, 7 of 20 HA families were diagnosed as intron 22 inversion, 6 of 13 non-inversion HA families were diagnosed by X ba I linkage analysis, 8 of 13 non-inversion HA families were diagnosed by two or more linkage analysis.


CONCLUSIONS
The improved X ba I linkage analysis is a specific and useful molecular diagnosis marker. LD-PCR and five-linkage analysis can be used in prenatal HA gene diagnosis.
Wang
Zhan-yong
ZY
Basic Medical Research Center of Capital Medical University Affiliated Chaoyang Hospital, Beijing 100020, China.
Liang
Yan
Y
Zhou
Yan
Y
Xiao
Bai
B
Liu
Jing-zhong
JZ
D005169:Factor VIII / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007438:Introns; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D005169:Factor VIII