[Analysis of Kell blood group system using polymerase chain reaction-restriction fragment-single strand conformation polymorphism combined with heteroduplex in Chinese].
OBJECTIVE
To investigate the polymorphism of Kell blood group system in Chinese and to find a suitable method for large scale screening.


METHODS
An 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.


RESULTS
Two 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.


CONCLUSIONS
PCR-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.
Yang
Ying
Y
Blood Group Reference Laboratory, Shanghai Blood Center, Shanghai, 200051 PR China. yangyinghla@yahoo.com.cn
Zhang
Yu-xian
YX
Guo
Zhong-hui
ZH
Zhu
Zi-yan
ZY
D044466:Asian People / Q000235:genetics; D002681:China; D020180:Heteroduplex Analysis / Q000379:methods*; D006801:Humans; D007626:Kell Blood-Group System / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
D007626:Kell Blood-Group System