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一个新的X连锁智力障碍(MRX20)家系中的短串联重复序列多态性连锁研究

Short tandem repeat polymorphism linkage studies in a new family with X-linked mental retardation (MRX20).

作者信息

Lazzarini A, Stenroos E S, Lehner T, McKoy V, Gold B, McCormack M K, Reid C S, Ott J, Johnson W G

机构信息

Department of Neurology, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, New Brunswick 08903, USA.

出版信息

Am J Med Genet. 1995 Jul 17;57(4):552-7. doi: 10.1002/ajmg.1320570407.

Abstract

A family with X-linked recessive mental retardation (XLMR) without other obvious manifestations (MRX20) was studied with 14 short tandem repeat polymorphism (STRP) markers. Two-point lod scores above 3 were obtained with DXS1003, DXYS1, DXS3, and DXS458. A multipoint lod score of 4.25 was obtained with peak at DXS1003. Recombination events identify a 55.6 cM interval between DXS1068 and DXS454, while a one unit support interval identifies 40 cM between MAOA and DXS458.

摘要

对一个没有其他明显表现的X连锁隐性智力迟钝(XLMR)家族(MRX20)使用14个短串联重复多态性(STRP)标记进行了研究。使用DXS1003、DXYS1、DXS3和DXS458获得了高于3的两点连锁值。在DXS1003处出现峰值,获得了4.25的多点连锁值。重组事件确定了DXS1068和DXS454之间55.6厘摩的区间,而一个单位支持区间确定了MAOA和DXS458之间40厘摩的区间。

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Linkage analysis in three families with nonspecific X-linked mental retardation.对三个患有非特异性X连锁智力迟钝家族的连锁分析。
Am J Med Genet. 1996 Jul 12;64(1):137-46. doi: 10.1002/(SICI)1096-8628(19960712)64:1<137::AID-AJMG24>3.0.CO;2-N.

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