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《Chinese Journal of Blood Transfusion》 2007-01
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Identification of two novel mutations of KEL alleles in Chinese population

ZHANG Yuxian,YANG Ying,Zhu Ziyan. Blood Group Reference laboratory, Shanghai Blood Center, Shanghai, 200051, China  
objective To study the polymorphism of KEL gene in Chinese population. Methods Single strand conformation polymorphism analysis of polymerase chain reaction-restriction fragment products (PCR-RF-SSCP) combined with heteroduplex were used to detect different pattern, the PCR products of exons 7-9 were sequenced. Results Two out of 500 samples were different from others, sequence analysis confirmed that the 2 samples had the 1086 GA mutation in exon 9 and 67 CA mutation of intron 7, the point mutation in exon 9 was synonymous. Conclusion Two novel mutations of KEL gene are identified.
【Fund】: 上海市卫生局科研课题基金资助课题(编号:054028)
【CateGory Index】: R450
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