[The St14 (DXS 52) VNTR in a Guangdong Han population and detection of hemophilia A carriers].
OBJECTIVE
To investigate the genetic polymorphism of the St14 (DXS 52) variable number tandem repeat (VNTR) in normal individuals in Guangdong, and to evaluate the efficacy of this marker for the gene diagnosis of hemophilia A.


METHODS
125 unrelated healthy individuals (male 21, female 104) and 4 hemophilia A families were detected using amplified-fragment-length polymorphism (Amp-FLP).


RESULTS
11 allelic fragments ranging from 700 to 1,810 bp in size and 7 different genotypes in males, 17 different genotypes in females were observed, respectively. The allele frequencies were 0.0044 to 0.4803. The polymorphism information contents (PIC) was 0.7335, and the heterozygosity was 0.432. Four families with hemophilia A were analyzed and 2 of them were informative for linkage analysis. In one family, 2 females were determined to be normal individuals, not carriers, one female carrier was detected in the other family.


CONCLUSIONS
St14 (DXS 52) was a useful polymorphism marker for carrier detection of hemophilia A in southern Chinese population, and it was different from those in Caucasian.
Ma
A
A
Department of Medical Genetics, Sun Yat-sen University of Medical Sciences, Guangzhou 510089, China.
Zeng
R
R
He
Q
Q
D002681:China; D041321:Chromosomes, Human, X / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening / Q000379:methods; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006467:Hemophilia A / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D005819:Genetic Markers; D004247:DNA