[脆性X综合征的分子遗传学。用DNA探针进行分子诊断]
[The molecular genetics of the fragile X syndrome. Its molecular diagnosis by DNA probes].
作者信息
Giné R, Espinás M L, Antich J, Carballo M
机构信息
Centro de Investigación y Desarrollo, Hospital de la Seguridad Social de Las Palmas.
出版信息
Med Clin (Barc). 1992 Feb 1;98(4):121-4.
BACKGROUND
The cytogenetic analysis of the fragile X affected shows a break point in the q27.3 region of chromosome X. However many carrier females and normal carrier males remain refractory to cytogenetic diagnosis. New DNA probes tightly linked to the fragile X point are now available allowing by the familiar RFLP analysis to detect the carrier members.
METHODS
Fragile X syndrome affected families were studied cytogenetically and by the use of DNA probes flanking the fragile X region: 1A1, U6.2, VK21 in the distal region and RN1, 4D-8, cX55.7 in the proximal.
RESULTS
The haplotypes from two X fragile syndrome affected families were obtained. These families were informatives for all the DNA probes used. The cytogenetic results obtained agree with the previously inheritance pattern reported.
CONCLUSIONS
It is very important to detect the normal male carriers. The determination in one family of the origin of the fragile X mutation is possible by the use of DNA probes.
背景
对脆性X综合征患者的细胞遗传学分析显示，在X染色体的q27.3区域存在一个断点。然而，许多携带脆性X基因的女性和正常男性携带者仍难以通过细胞遗传学诊断出来。现在有了与脆性X位点紧密连锁的新型DNA探针，通过熟悉的限制性片段长度多态性（RFLP）分析就能检测出携带者。
方法
对脆性X综合征患者家系进行了细胞遗传学研究，并使用了位于脆性X区域两侧的DNA探针：远端区域的1A1、U6.2、VK21，以及近端区域的RN1、4D - 8、cX55.7。
结果
获得了两个脆性X综合征患者家系的单倍型。这些家系对所使用的所有DNA探针都具有信息价值。所获得的细胞遗传学结果与先前报道的遗传模式一致。
结论
检测正常男性携带者非常重要。通过使用DNA探针，有可能在一个家系中确定脆性X突变的起源。
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