Normal FMR-1 alleles in the Chinese population
Refereed conference paper presented and published in conference proceedings

香港中文大學研究人員

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摘要The Fragile X syndrome is related to the number of trinucleotide CGG repeats at the 5' untranslated region of the causative FMR-I gene. We have studied 994 normal X chromosomes from unrelated Chinese subjects in Hong Kong, Shanghai, Changsha and Dalian which are located in different parts of China. CGG repeats was analyzed by polymerase chain reaction and detected by hybridization with a P-32 labelled (CCG)(5) probe. A different distribution pattern of CGG allele size from the Caucasians is observed, it is a bimodal pattern and the most common CGG repeat allele is 29 against 30 in the Caucasians. Five alleles of more than 50 CGG repeats were detected, four of them in heterozygous females. There was no difference in the repeat pattern in subjects from the four Chinese cities, suggesting no geographical differences. Our data provides a foundation for screening of affected individuals and carriers of the fragile X syndrome in the Chinese population.
著者Poon PMK, Zhao Z, Yin CH, Wu XQ, Ni YX, Pang CCP
會議名稱2nd Asian Pacific Regional Meeting of the International-Society-for-Neonatal-Screening
會議開始日28.11.1995
會議完結日01.12.1995
會議地點HONG KONG
會議國家/地區香港
詳細描述ed. by Stephen T.S. Lam and Calvin C.P. Pang.
出版年份1996
月份1
日期1
出版社CHINESE UNIV PRESS
頁次99 - 105
國際標準書號962-201-765-7
語言英式英語
Web of Science 學科類別Pediatrics

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