Bam HI Restriction Fragment Length Polymorphisms for Hypoxanthine‐Guanine Phosphoribosyltransferase (HPRT) Gene of Carriers and Controls of HPRT Deficiency in Japan
作者:
Takashi Igarashi,
Hirohiko Ikegami,
Hiroko Yamazaki,
Mutsuhiko Minami,
期刊:
Pediatrics International
(WILEY Available online 1990)
卷期:
Volume 32,
issue 1
页码: 12-15
ISSN:1328-8067
年代: 1990
DOI:10.1111/j.1442-200X.1990.tb00777.x
出版商: Blackwell Publishing Ltd
关键词: Hypoxanthine‐guanine phosphoribosyltransferase (HPRT);Restriction fragment length polymorphisms (RFLPs);Southern blotting;Carrier detection.
数据来源: WILEY
摘要:
Three‐allele restriction fragment length polymorphisms (RFLPs) for the restriction endonuclease Bam HI are known at the hypoxanthine‐guanine phosphoribosyltransferase (HPRT, E.C.2.4.2.8.) gene locus. The alleles are expressed phenotypically on Southern blots as three distinct pairs of fragments that hybridize to HPRT cDNA: i)a 22‐kilobase (kb) / 25‐kb pair, ii) a 12‐kb / 25‐kb pair, and iii) a 22‐kb / 18‐kb pair. Allele frequencies in 119 unrelated Japanese people were 0.38 for the 22‐kb / 25‐kb allele, 0.43 for the 12‐kb / 25‐kb allele, and 0.19 for the 22‐kb / 18‐kb allele, an average heterozygosity of 66% in Japanese females, a higher rate than in Caucasian females. Five out of nine carriers of partial or complete HPRT deficiency showed heterozygou
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