Azen E A, Yu P L
Biochem Genet. 1984 Dec;22(11-12):1065-80. doi: 10.1007/BF00499632.
Two new genetic polymorphisms (Pe and Po) are found in human parotid saliva. Each polymorphism is determined by the autosomal inheritance of one expressed (dominant) and one unexpressed (recessive) allele. Autosomal inheritance is supported by studies of 63 families including 264 children for Pe and 57 families including 242 children for Po. For randomly collected salivas, gene frequencies in 317 whites are Pe+ = 0.76 and Pe- = 0.24; in 408 whites, Po+ = 0.75 and Po- = 0.25; in 51 blacks, Pe+ = 0.76 and Pe- = 0.24; and in 59 blacks, Po+ = 0.77 and Po- = 0.23. Both Pe and Po proteins react immunologically with polyclonal antisera prepared to proline-rich proteins PRPs. The Pe protein has an isoelectric point of approximately pH 6.1-6.3, and the Po protein has an isoelectric point greater than pH 8.0. In randomly collected salivas, the Pe and Po proteins are associated with other known salivary PRPs. The Pe protein is most strongly associated with the CON 1 and Ps proteins, is less strongly associated with the Pr and Pa proteins, and is not significantly associated with the PmF, PmS, PIF, Db, Con 2, or Gl proteins. If it is assumed that the strength of these associations (presumed linkage disequilibrium) may be related in part to map distance, then these data roughly fit the linear order of PRP genes as previously determined from recombination data derived from family linkage studies. The Po protein is associated with the PmS protein. There is evidence for probable linkage of Pe and Po to the SPC (salivary protein gene complex): Pe to Pa (nine families, lod score at theta = 0 is 2.67) and Po to CON 2 (three families, lod score at theta = 0 is 2.35).
在人类腮腺唾液中发现了两种新的基因多态性(Pe和Po)。每种多态性由一个表达(显性)等位基因和一个未表达(隐性)等位基因的常染色体遗传决定。对63个家庭(包括264名儿童)进行的Pe研究以及对57个家庭(包括242名儿童)进行的Po研究均支持常染色体遗传。对于随机收集的唾液,317名白人中的基因频率为Pe+ = 0.76,Pe- = 0.24;408名白人中,Po+ = 0.75,Po- = 0.25;51名黑人中,Pe+ = 0.76,Pe- = 0.24;59名黑人中,Po+ = 0.77,Po- = 0.23。Pe和Po蛋白均能与针对富含脯氨酸蛋白PRP制备的多克隆抗血清发生免疫反应。Pe蛋白的等电点约为pH 6.1 - 6.3,Po蛋白的等电点大于pH 8.0。在随机收集的唾液中,Pe和Po蛋白与其他已知的唾液PRP相关。Pe蛋白与CON 1和Ps蛋白关联最强,与Pr和Pa蛋白的关联较弱,与PmF、PmS、PIF、Db、Con 2或Gl蛋白无显著关联。如果假设这些关联的强度(推测的连锁不平衡)可能部分与图谱距离相关,那么这些数据大致符合先前从家族连锁研究的重组数据确定的PRP基因的线性顺序。Po蛋白与PmS蛋白相关。有证据表明Pe和Po可能与SPC(唾液蛋白基因复合体)连锁:Pe与Pa连锁(9个家庭,θ = 0时的lod值为2.67),Po与CON 2连锁(3个家庭,θ = 0时的lod值为2.35)。