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一种非特异性X连锁智力迟钝基因的定位：与染色体区域Xp21.1 - Xp22.3连锁的证据。

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.

作者信息

Kozák L, Chiurazzi P, Genuardi M, Pomponi M G, Zollino M, Neri G

机构信息

Istituto di Genetica Medica, Facoltà di Medicina A Gemelli, Università Cattolica del S Cuore, Roma, Italy.

出版信息

J Med Genet. 1993 Oct;30(10):866-9. doi: 10.1136/jmg.30.10.866.

DOI:10.1136/jmg.30.10.866
PMID:8230164
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016571/
Abstract

Linkage analysis of a non-specific form of X linked mental retardation (MRX) was performed with 16 polymorphic markers spanning the entire X chromosome in a three generation Italian family, including four male patients with moderate mental retardation. One obligate carrier woman had mild mental retardation and another two had normal intelligence. The results indicate tight linkage to DNA markers DXS84 (L754), DXS164 (pERT87-15), and DXS278 (CRI-S232). A maximum lod score of 2.11 at theta = 0.00 was obtained with DXS164 and DXS278. The linked region spanned chromosomal bands Xp21.1-Xp22.3, that is, the same portion of the X chromosome where MRX2 and MRX10-13 have been previously localised.

摘要

在一个三代意大利家庭中，对一种非特异性形式的X连锁智力迟钝（MRX）进行了连锁分析，该家庭中有四名中度智力迟钝的男性患者。一名肯定携带者女性有轻度智力迟钝，另外两名智力正常。结果表明与DNA标记DXS84（L754）、DXS164（pERT87 - 15）和DXS278（CRI - S232）紧密连锁。使用DXS164和DXS278在θ = 0.00时获得的最大lod分数为2.11。连锁区域跨越染色体带Xp21.1 - Xp22.3，即先前已定位MRX2和MRX10 - 13的X染色体的同一部分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5ae/1016571/3315f4fb77ac/jmedgene00012-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5ae/1016571/3ffebb0594a8/jmedgene00012-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5ae/1016571/3315f4fb77ac/jmedgene00012-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5ae/1016571/3ffebb0594a8/jmedgene00012-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5ae/1016571/3315f4fb77ac/jmedgene00012-0070-a.jpg

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