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腮腺大小变异体(Ps)的多态性以及与腮腺中间带(Pm)系统相关的一种蛋白质(PmS)的检测,其中Ps和Pm与Gl、Db和Pr基因决定因素存在基因连锁关系。

Polymorphism of Ps (parotid size variant) and detection of a protein (PmS) related to the Pm (parotid middle band) system with genetic linkage of Ps and Pm to Gl, Db, and Pr genetic determinants.

作者信息

Azen E A, Denniston C

出版信息

Biochem Genet. 1980 Jun;18(5-6):483-501. doi: 10.1007/BF00484396.

Abstract

Genetic polymorphism of the Ps (parotid size variant) proteins found in saliva is determined by autosomal inheritance of two expressed and one unexpressed allele. This hypothesis is supported by studies in 43 families including 153 children. Gene frequencies determined for 150 randomly collected salivas from whites and 101 randomly collected salivas from blacks are as follows: for whites, Ps1 = 0.598, Ps2 = 0.101, Ps0 = 0.301; for blacks, Ps1 = 0.185, Ps2 = 0.126, and Ps0 = 0.689. The electrophoretic polymorphism is manifested by apparent differences in molecular weights between Ps proteins. The Ps proteins are glycosylated and have an approximate isoelectric point of pI 8.1 as determined by isoelectric focusing in gels. We have also found in saliva the presence of a protein (PmS) which shows strong positive correlations with the presence of the smaller sized Pm (PmF) salivary protein described by Ikemoto et al. (1977). This suggested that PmS is probably part of the Pm protein polymorphic system. For randomly collected salivas from whites, the gene frequencies are PmF+ = 0.15 (N = 140) and PmS+ = 0.12 (N = 150). For randomly collected salivas from blacks, the gene frequency is PmS+ = 0.24 (N = 101). The gene frequency of PmF+ was not determined. Family studies support autosomal inheritance of PmF and PmS.

摘要

唾液中发现的Ps(腮腺大小变体)蛋白的遗传多态性由两个表达等位基因和一个未表达等位基因的常染色体遗传决定。这一假设得到了对43个家庭(包括153名儿童)的研究支持。对150份随机收集的白人唾液和101份随机收集的黑人唾液测定的基因频率如下:白人中,Ps1 = 0.598,Ps2 = 0.101,Ps0 = 0.301;黑人中,Ps1 = 0.185,Ps2 = 0.126,Ps0 = 0.689。电泳多态性表现为Ps蛋白之间分子量的明显差异。Ps蛋白是糖基化的,通过凝胶等电聚焦测定其近似等电点为pI 8.1。我们还在唾液中发现了一种蛋白质(PmS),它与Ikemoto等人(1977年)描述的较小尺寸的Pm(PmF)唾液蛋白的存在呈强正相关。这表明PmS可能是Pm蛋白多态性系统的一部分。对于随机收集的白人唾液,基因频率为PmF+ = 0.15(N = 140)和PmS+ = 0.12(N = 150)。对于随机收集的黑人唾液,基因频率为PmS+ = 0.24(N = 101)。未测定PmF+的基因频率。家系研究支持PmF和PmS的常染色体遗传。

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