Analysis of Kell blood group system using polymerase chain reaction-restriction fragment-single strand conformation polymorphism combined with heteroduplex in Chinese.
- Author:
Ying YANG
1
;
Yu-xian ZHANG
;
Zhong-hui GUO
;
Zi-yan ZHU
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; China; Heteroduplex Analysis; methods; Humans; Kell Blood-Group System; genetics; Polymerase Chain Reaction; methods; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational
- From: Chinese Journal of Medical Genetics 2007;24(2):186-188
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the polymorphism of Kell blood group system in Chinese and to find a suitable method for large scale screening.
METHODSAn analysis method of polymerase chain reaction-restriction fragment-single strand conformation polymorphism (PCR-RF-SSCP) combined with heteroduplex was established to detect abnormal sample in KEL exon 7-9 area, then sequencing was used to find out the mutation site.
RESULTSTwo mutations were found from 500 samples: 966G > A mutation in exon 9 and C > A mutation in 67th site of intron 7, both with no amino acid change. The mutation rate was 4/1000. No mutation was found as missed in using PCR-RF-SSCP combined with heteroduplex.
CONCLUSIONPCR-RF-SSCP combined with heteroduplex is confirmed as an effective, economical and simple method, it is quite suitable for large scale population screening study with unclear gene background and unavailable positive controls. Since there is special polymorphism for Kell blood group system in Chinese, further study is needed.
