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[利用对电离辐射的敏感性检测共济失调毛细血管扩张症杂合子]

[Detection of heterozygotes for ataxia telangiectasia using sensitivity to ionizing radiation].

作者信息

Arguello Astorga R, Cárdenas Gómez G, Martínez-Cairo Cueto S

机构信息

Departamento de inmunología clínica y alergia, Hospital de Especialidades, CMN Siglo XXI, IMSS, México.

出版信息

Rev Alerg Mex. 1994 Jul-Aug;41(4):98-102.

PMID:7982040
Abstract

Recent research have demonstrated that homozygotic and heterozygotic patients with ataxia telangiectasia (AT) show chromosomal rupture. Taking in consideration this characteristic, a study was designed, inducing chromosomal breaks in granulocytes from patients with AT, and heterozygotic carriers of AT compared with a group of healthy individuals. The number of chromosomic ruptures induced by 14 doses of radiation at 125 KV and 125 mA, was measured in all of them. Results suggest significant differences in the number of chromosomal structural alterations induced by radiation in granulocytes from heterozygotic carriers of AT, similar to structural alterations in lymphocytes from patients with AT. It is demonstrated that these alterations occur preferentially in one group C chromosome, both in homozygotic and heterozygotic patients with AT.

摘要

近期研究表明,共济失调毛细血管扩张症(AT)的纯合子和杂合子患者会出现染色体断裂。考虑到这一特征,设计了一项研究,诱导AT患者以及AT杂合子携带者的粒细胞发生染色体断裂,并与一组健康个体进行比较。测量了所有人在125千伏和125毫安的条件下接受14次辐射剂量后诱导产生的染色体断裂数量。结果表明,AT杂合子携带者的粒细胞因辐射诱导产生的染色体结构改变数量存在显著差异,这与AT患者淋巴细胞中的结构改变类似。结果还表明,这些改变在AT纯合子和杂合子患者中均优先发生在一组C染色体上。

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Rev Alerg Mex. 1994 Jul-Aug;41(4):98-102.
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