Genetic polymorphisms of four short tandem repeat loci within factor Ⅷ gene and their application in gene diagnosis for haemophilia A
10.3760/cma.j.issn.1009.9158.2009.07.014
- VernacularTitle:凝血因子Ⅷ基因内四个短串联重复序列多态性及其在血友病A基因诊断中的应用
- Author:
Mei YAN
;
Yan LIANG
;
Xinping FAN
;
Jie DING
;
Bai XIAO
;
Jingzhong LIU
- Publication Type:Journal Article
- Keywords:
Haemophilia A;
Factor Ⅷ;
Micresatellite repeats;
Polymorphism,genetic;
Polymerase chain reaction
- From:
Chinese Journal of Laboratory Medicine
2009;32(7):785-788
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the polymorphisms of short tandem repeat (STR) loci in intron 1, 24, 13 and 22 (STR 1,24, 13, 22) of factor Ⅷ (FⅧ) gene in Chinese population, and establish single tube multiple fluorescent PCR method for rapid diagnosis of haemophilina A(HA). Methods Four STRs from genomie DNA of 220 females without blood relationship were amplified in a single tube using quadri-fluorescence PCR. Capillary electrophoresis was analyzed in ABI PRISM 310 Genetic Analyzer. DNA sequencing was used to assay the number of dinueleotide repeats. Gene diagnosis were performed in 96 HA families. Results It was observed that 7, 9, 10 and 7 different alleles were found in STR1, 24, 13 and 22, respectively. The PIC (polymorphism information contents) were 0. 3789, 0. 4055, 0. 5239 and 0. 4713 in STR1,24, 13 and 22, respectively, and the HR (heterozygesity rate) were 34. 55% (76/220), 38. 18% (84/220), 49. 55% (109/220) and 43.64% (96/220). In 96 HA families, the diagnosis rate of STR1, 24, 13 and 22 were 38. 54% (37/96), 38. 54% (37/96), 54. 17% (52/96), 42. 71% (41/96), respectively. Whereas it achieved 79. 17% (76/96) when combining the four STR markers. Conciusion The single tube multiple fluorescent PCR of four STR loci is an effective, simple, quick method for linkage analysis and gene diagnosis of haemophilia A.
