Improvement and application of DXS52(St14) in gene diagnosis of hemophilia A.
- Author:
Mei YAN
1
;
Yan LIANG
;
Xing CHEN
;
Xin-ping FAN
;
Bai XIAO
;
Jing-zhong LIU
Author Information
- Publication Type:Journal Article
- MeSH: Chromosome Mapping; methods; Chromosomes, Human, X; Factor VIII; genetics; Female; Genetic Linkage; Genetic Markers; Hemophilia A; diagnosis; genetics; Humans; Male
- From: Chinese Journal of Medical Genetics 2011;28(1):19-22
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo improve the experimental method of DXS52 (St14) and apply it to genetic testing for hemophilia A (HA).
METHODSPCR of DXS52 and agarose gel electrophoresis were performed for genetic testing in 61 non-inversion HA families. Linkage analysis of 7 loci within the FVIII gene including Bcl I, Hind III, Xba I, STR1, STR13, STR22 and STR24 were also carried out for the 61 families.
RESULTSDXS52 can provide information in 43 out of 61 families and the diagnostic rate was 70.5%. Eight families can be diagnosed only by DXS52 locus, accounting for 13.1%. Two families were found to have recombination between DXS52 and FVIII.
CONCLUSIONThe new experimental conditions can reach accurate and clear results in DXS52 genetic testing. This gene maker has high diagnostic rate, so it is an indispensable linkage analysis method in HA gene diagnosis. More caution should be paid when using the extragenic locus DXS52 to perform gene diagnosis because of its high recombinant rate with FVIII.
