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磷酸乙醇酸磷酸酶(PGP)——E.C.3.1.3.18的种群、形式遗传学及连锁关系

Population, formal genetics, and linkage relations of the phosphoglycolate phosphatase (PGP)--E.C.3.1.3.18.

作者信息

Brink W, Baur M P, Rittner C

出版信息

Hum Genet. 1981;59(4):386-8. doi: 10.1007/BF00295477.

Abstract

One hundred and sixty-seven blood donors, 26 families with 72 offspring and 12 motherchild couples were studied for the phosphoglycolate phosphatase polymorphism. In hemolysates, the isozymes are stable for at least five weeks. The distribution of observed phenotypes in the population study did not diverge from the expected values according to Hardy-Weinberg law. In the family study, the formal genetic model of three alleles--PGP1, PGP2 and PGP3 at one autosomal locus-could be confirmed. Among 33 individuals from a Mongoloid population PGP1 was observed in 100%. This observation lead us to the conclusion, based also on recent data in Negroid populations (Barker and Hopkinson 1978), that phosphoglycolate phosphatase may be a more recent polymorphism of Caucasoid populations. Linkage studies with the hp alpha locus an chromosome 16 resulted in 19 meiotic divisions of 4 informative families in a lod score peak of 0.23 at theta 0.25 being inconclusive. The inclusion of the PGP system in paternity testing is also discussed.

摘要

对167名献血者、26个家庭的72名后代以及12对母婴进行了磷酸乙醇酸磷酸酶多态性研究。在溶血产物中,同工酶至少可稳定五周。群体研究中观察到的表型分布与根据哈迪-温伯格定律预期的值没有差异。在家庭研究中,一个常染色体位点上三个等位基因(PGP1、PGP2和PGP3)的正式遗传模型得到了证实。在33名蒙古人种群体个体中,100%观察到PGP1。这一观察结果,同时也基于尼格罗人种群体的最新数据(巴克和霍普金森,1978年),使我们得出结论,磷酸乙醇酸磷酸酶可能是高加索人种群体中较新出现的一种多态性。对位于16号染色体上的α-血红蛋白(hp alpha)位点进行连锁研究,在4个信息丰富的家庭中产生了19次减数分裂,在θ为0.25时lod分数峰值为0.23,结果不明确。文中还讨论了将PGP系统用于亲子鉴定的问题。

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