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C波段多态性:21三体综合征病例与智力迟钝对照之间的比较。

C-band polymorphism: comparison between trisomy 21 cases and mentally retarded controls.

作者信息

Funderburk S J, Klisak I, Sparkes R S, Westlake J

出版信息

Am J Med Genet. 1980;5(3):265-9. doi: 10.1002/ajmg.1320050308.

Abstract

C-banding was done prospectively on 50 Down syndrome (trisomy 21) cases and 50 mentally retarded controls. Heterochromatin was quantitated by measuring the lengths of heterochromatin blocks and comparing these segments to the length of the short arm of chromosome 16 for 1, 9 and 16 heterochromatin, and to the total length of the Y chromosome for the Y heterochromatin in the distal long arm. For the first 30 individuals in each group, there was no difference in the mean lengths of C-band blocks of the 1, 9, 16 and Y chromosomes. For the total sample, there also was no difference between the trisomy 21 cases and controls in the number or size of pericentric inversions involving the heterochromatin blocks of chromosomes 1 and 9. Assuming random segregation of the parental C-band polymorphisms, this study gives no evidence for an association between such polymorphisms of the 1, 9, 16 and Y chromosomes and nondisjunction of chromosome 21.

摘要

对50例唐氏综合征(21三体)病例和50例智力发育迟缓对照者进行了前瞻性C带分析。通过测量异染色质块的长度,并将这些片段与1号、9号和16号染色体短臂的长度进行比较以对1号、9号和16号染色体的异染色质进行定量,对于Y染色体异染色质,则将其与Y染色体长臂远端的总长度进行比较。在每组的前30名个体中,1号、9号、16号和Y染色体C带块的平均长度没有差异。对于整个样本,21三体病例和对照者在涉及1号和9号染色体异染色质块的臂内倒位的数量或大小方面也没有差异。假设亲本C带多态性随机分离,本研究没有证据表明1号、9号、16号和Y染色体的此类多态性与21号染色体不分离之间存在关联。

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