Nagai K, Yanagisawa I, Hayashi K
Department of Biochemistry, Tokyo Medical College, Japan.
Mol Cell Biochem. 1991 Jan 16;100(1):71-8. doi: 10.1007/BF00230811.
Four Y-specific DNAs of different sizes were isolated by screening a human Y-chromosome gene-library. After determining their structural characteristics, the possibility for their clinical application was examined. The results are as follows: 1. The 4 cloned DNAs had inserts of 3.3, 2.0, 1.9 and 1.4 kb; they were subcloned into plasmid pUC19, and designated pKY-2, pKY-3, pKY-4 and pKY-5, respectively. 2. All four clones hybridized specifically with the Y-specific 3.5 kb DNA but not with female DNA. However, they did not cross-hybridize with the 2.1 kb fragment known to be another Y-specific repetitive DNA of human genomes. 3. The newly cloned probes were applied to the detection of Y-specific DNA in abnormal Y-chromosomes [Turner Syndrome (45, X/46, X, -X, + marker), 46, XY-female, mosaicism (46, XY/47, XYY), 46, XX-male and super male (47, XYY)]. 4. Since the newly cloned DNAs did not hybridize with other eukaryotic genome DNAs such as monkey, rat, mouse, chicken, frog, or fish, their human gene specificities were confirmed.
通过筛选人类Y染色体基因文库，分离出了4种不同大小的Y特异性DNA。在确定了它们的结构特征后，研究了它们临床应用的可能性。结果如下：1. 4个克隆的DNA插入片段大小分别为3.3、2.0、1.9和1.4 kb；它们被亚克隆到质粒pUC19中，分别命名为pKY-2、pKY-3、pKY-4和pKY-5。2. 所有4个克隆都与Y特异性的3.5 kb DNA特异性杂交，但不与女性DNA杂交。然而，它们与已知为人类基因组另一种Y特异性重复DNA的2.1 kb片段不发生交叉杂交。3. 将新克隆的探针应用于检测异常Y染色体[特纳综合征（45,X/46,X,-X,+标记）、46,XY女性、嵌合体（46,XY/47,XYY）、46,XX男性和超雄（47,XYY）]中的Y特异性DNA。4. 由于新克隆的DNA不与其他真核基因组DNA如猴、大鼠、小鼠、鸡、蛙或鱼杂交，因此证实了它们的人类基因特异性。
