α1-抗胰蛋白酶（PI）表型在染色体异常中的分布。
Distribution of alpha 1-antitrypsin (PI) phenotypes in chromosome abnormalities.
作者信息
Mulley J C, Sutherland G R
出版信息
Hum Genet. 1981;57(2):176-9. doi: 10.1007/BF00282017.
PI phenotypes (including subtypes) were determined for 168 individuals with chromosomal abnormalities ascertained in Adelaide. These included patients with mosaicism, trisomy 21, trisomy 13, trisomy 18, and various sex chromosome aberrations (45,X, 47,XXX, 47,XXY, 47, XYY, and 48,XXXY). Data did not support an existing proposition that mildly deficient PI phenotypes predispose to abnormal chromosome segregation during mitosis of meiosis. Phenotypic distributions of each group were statistically similar to control populations of cord bloods and bloods donors.
对在阿德莱德确诊的168名染色体异常个体的PI表型（包括亚型）进行了测定。这些个体包括嵌合体、21三体、13三体、18三体患者，以及各种性染色体畸变患者（45,X、47,XXX、47,XXY、47,XYY和48,XXXY）。数据不支持现有的一种观点，即轻度缺陷的PI表型易导致减数分裂或有丝分裂期间染色体异常分离。每组的表型分布与脐带血和献血者的对照人群在统计学上相似。
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