21号染色体上肝脏型6-磷酸果糖激酶同工酶的区域定位
Regional mapping of liver type 6 phosphofructokinase isoenzyme on chromosome 21.
作者信息
Chadefaux B, Rethoré M O, Allard D
出版信息
Hum Genet. 1984;68(2):136-7. doi: 10.1007/BF00279302.
PMID:6238898
Abstract
Among several cases of partial monosomies and full and partial trisomies 21, the enzymatic activity of phosphofructokinase (PFK) is increased only in 21q21----21pter trisomy with a (T21/N) ratio equal to 1.35 and decreased in monosomy 21q21----21pter. These results suggest that the human gene for liver-type PFK is located between 21q21 and 21pter.
摘要
在几例21号染色体部分单体性、完全三体性和部分三体性病例中，磷酸果糖激酶（PFK）的酶活性仅在21q21----21pter三体性且（T21/N）比值等于1.35时升高，而在21q21----21pter单体性时降低。这些结果表明，肝型PFK的人类基因位于21q21和21pter之间。
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