Chromosome polymorphism in a human newborn population
Chromosome polymorphism in a human newborn population
复制标题
人类新生儿群体的染色体多态性
DOI：
--
复制
发表时间：
1975
期刊：
影响因子：
--
通讯作者：
M. Glasser
中科院分区：
文献类型：
--
作者：
H. Müller;H. Klinger;M. Glasser
对出生于纽约布朗克斯阿尔伯特爱因斯坦学院医院的376名新生儿的脐带血白细胞复制染色体制备物进行C-、Q-和G-显带染色，以确定可变染色体带的频率和分布。对主要染色体1、9和16的C-带变体，以及其余C-、E-和F-组染色体的C-带变体，以及染色体3和4的明亮荧光Q-带变体和所有的近端着丝粒体，包括Y，进行了类似的分析。这些染色体区域的多态性是如此广泛，以至于本研究的376名新生儿中的每一个的特征图都有独特的变异模式，即使只比较C带或Q带模式。除了3号和22号染色体外，其它染色体的多态性Q带分布与Hardy-Weinberg定律的预期一致。在3号和22号染色体上发现了一些具有“纯合”Q带模式的个体的缺陷。这里提供的基线数据加强了这样的观点，即多态性染色体特征是描述染色体核型的非常有用的标记。
Replicate chromosome preparations of umbilical-cord-blood leukocytes from 376 neonates born at the Albert Einstein College Hospital, Bronx, New York, were stained with C-, Q-, and G-banding methods to determine the frequencies and distributions of the variable chromosome bands. The C-band variants of primarily chromosomes 1, 9, and 16, as well as those of the remaining C-, E-, and F-group chromosomes, and the brightly fluorescing Q-band variants of chromosomes 3 and 4 and all of the acrocentrics, including the Y, were similarly analyzed. Polymorphism of these chromosome regions was so extensive that the idiogram of each of the 376 newborns of this study had a unique variant pattern, even when only the C- or only the Q-band patterns were compared. The distribution of polymorphic Q-bands in the population sampled was consistent with the expectations of the Hardy-Weinberg law, with the exception of chromosomes 3 and 22, where some deficiency of individuals with “homozygous” Q-band patterns was found. The baseline data presented here reinforce the view that polymorphic chromosome characteristics are very useful markers for characterizing the karyotype of an