[The significance of nucleotide repeat sequences in FVIII gene for detecting hemophilia A carriers].
OBJECTIVE
To detect the carriers in hemophilia A(HA) families by haplotype analysis of the microsatellite polymorphisms at intron 13 [13(CA)n] and 22[22(GT)n(AG)n] in the factor VIII (FVIII) gene.


METHODS
Multi-PCR amplification of 13(CA)n and 22(GT)n(AG)n combined with silver staining were used.


RESULTS
In 35 HA families, 11 had HA history. There were 21 female members in the 11 HA families and all of them were subjected to molecular study. Fourteen of the 21 females were confirmed to be carriers and approximately 72.7%(8 of 11) of these families were informative.


CONCLUSIONS
Besides the reliable detection of HA carriers, multi-PCR combined with silver staining in HA analysis has the advantages of time saving, simplicity for performing and no radiation contamination.
Long
G
G
Hemoglobin Laboratory, First Affiliated Hospital, Guangxi Medical University, Nanning 530021, China.
Zhu
C
C
Liu
J
J
D000483:Alleles; D004247:DNA / Q000235:genetics; D005169:Factor VIII / Q000235:genetics*; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006467:Hemophilia A / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*
D005169:Factor VIII; D004247:DNA