论文部分内容阅读
本文详细地介绍了以外周血液培养来研究人类染色体的技术,这些都是我们实验室几年来根据国外文献作了一些修改,以适合于我们的具体条件而拟订的.同时应用这些方法对若干病例作了细胞遗传学的研究,主要结果如下:1.四例先天愚型:在这些病例中,绝大多数中期细胞的染色体数均为47.核型分析表明为G-三体型.一般认为这是由于母亲在卵细胞形成时发生了染色体不分离的结果.2.睾丸女性化:这里报导了一个很大的家系,这一综合症的患者在该家系中已络续出现了三代.其中的一个病人用于白细胞的染色体研究.结果是正常人的双倍体数(2n=46), 具有正常男性的核型,即XY.口腔粘膜及多形核嗜中性球的性染色质扦查为阴性.这种结果显然不符合于这样的假设,即认为该种综合症的性染色体组成是XXY.结合以往一些作者的研究,我们认为该综合症是以伴性隐性或限性的常染色体显性而遗传的.但从现有证据尚不足以区分这两种的可能性.3.无睾畸形:白细胞的双倍体数为2n=46,显示正常的男性核(XY).性染色质为阴性.鉴于该病例为散发性的,我们认为它有可能起因于基因突变.4.女性假两性畸形:由白细胞的初步分析,认为可能是XO(45)/XY(46)嵌合体.但为了肯定其确切的核型,还有待于对病者的皮肤和骨髓作进一步的研究.
This article describes in detail the techniques used to study human chromosomes by peripheral blood cultures, which were developed by our laboratory for several years based on foreign literature, tailored to our specific conditions, and to apply these methods to a number of cases The main results are as follows: 1. Four cases of Down’s syndrome: In these cases, the majority of metaphase cells have a chromosome number of 47. The karyotype analysis indicates G-trisomy, Is due to the mother in the formation of egg cells did not separate the results of chromosome 2. Feminization of the testicles: Here reported a large pedigree, the syndrome of patients in the family has continued to appear three generations.One of which The patient was used for the chromosome study of leukocytes The result was normal diploid (2n = 46), with normal male karyotypes, ie XY. Oral mucosa and polymorphonuclear neutrophil chromatin Negative .This result is obviously not consistent with the assumption that the sex composition of the sex chromosome is XXY.Combined with some previous studies, we believe that the syndrome is associated with recessive or limited Chromosome dominant and hereditary.But from the available evidence is not enough to distinguish between the two possibilities.3.Equity deformity: leukocyte diploid number 2n = 46, showing the normal male nucleus (XY) Chromatin was negative. In view of the sporadic cases, we think it may be caused by genetic mutations .4. Female pseudohermaphroditism: preliminary analysis of white blood cells, that may be XO (45) / XY (46) chimera However, in order to confirm its exact karyotype, further study on the skin and bone marrow of patients has yet to be carried out.