Brdicka R, Sieglová Z
Cas Lek Cesk. 1995 Dec 13;134(24):798-800.
The Y chromosome, the only chromosome present only in the male karyotype, is one of the smallest human chromosomes. Its content of protein-forming genes is, as compared with other chromosomes, greatly reduced and if we omit the part homologous with the X chromosome it is really minimal. For normal development the area occupied by locus TDF or SRY can be considered essential. The antigenic locus HY is also associated with male sex. Well known are also the amelogenin locus which is in the pseudoautosomal area, the locus conditioning Kallmann's syndrome and locus ASMTY for hydroxyindole-O-methyltransferase--the last enzyme of the metabolic route to the pineal hormone melatonin. With regard to the presence of many highly polymorphous areas the Y chromosome is predestined for population studies where it supplements aptly investigations of the mitochondrial genome, and for investigations of cellular chimerism after allogeneic transplantations.
Y染色体是唯一仅存在于男性核型中的染色体,是人类最小的染色体之一。与其他染色体相比,其形成蛋白质的基因含量大幅减少,若除去与X染色体同源的部分,其基因含量确实极少。对于正常发育而言,TDF或SRY基因座所占区域可被视为至关重要。抗原基因座HY也与男性性别相关。同样广为人知的还有位于假常染色体区域的釉原蛋白基因座、导致卡尔曼综合征的基因座以及羟基吲哚-O-甲基转移酶的ASMTY基因座(该酶是松果体激素褪黑素代谢途径的最后一种酶)。鉴于存在许多高度多态性区域,Y染色体注定要用于群体研究,在群体研究中它能很好地补充线粒体基因组的研究,也适用于异体移植后细胞嵌合体的研究。