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近端着丝粒染色体短臂卫星序列缺失的频率

Frequency of deletion of short arm satellites in acrocentric chromosomes.

作者信息

Nielsen J, Friedrich U, Hreidarsson A B

出版信息

J Med Genet. 1974 Jun;11(2):177-80. doi: 10.1136/jmg.11.2.177.

Abstract

The frequency of deletion of short arm satellites has been examined in various populations. Four out of 2509 males in psychiatric institutions and prisons had Dps- or Gps- (1·6 per 1000), and five out of 6187 persons in the general population had Dps- or Gps- (0·8 per 1000). The difference is not significant. The segregation rate of the chromosome with lack of short arm satellite material did not deviate from unity in the few families where such calculations were possible. There was no increase in abortions or non-disjunction in the families with an acrocentric chromosome lacking short arm satellite material. The study indicates that the frequency of Dps- and Gps- in the population is between 0·5 and 1·0 per 1000 and that the lack of short arm satellite material is without any deleterious effect on phenotype.

摘要

已在不同人群中研究了短臂卫星缺失的频率。精神病院和监狱中的2509名男性中有4人存在Dps-或Gps-(每1000人中有1.6人),普通人群的6187人中有5人存在Dps-或Gps-(每1000人中有0.8人)。差异不显著。在少数可以进行此类计算的家庭中,缺乏短臂卫星物质的染色体的分离率并未偏离1。在具有缺乏短臂卫星物质的近端着丝粒染色体的家庭中,流产或不分离现象没有增加。该研究表明,人群中Dps-和Gps-的频率为每1000人中有0.5至1.0人,并且缺乏短臂卫星物质对表型没有任何有害影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dad7/1013115/9658dcce47db/jmedgene00319-0071-a.jpg

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