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4号染色体上的遗传和物理图谱缩小了面肩肱型肌营养不良症（FSHD）基因的定位范围。

Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD).

作者信息

Mills K A, Buetow K H, Xu Y, Ritty T M, Mathews K D, Bodrug S E, Wijmenga C, Balazs I, Murray J C

机构信息

Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242.

出版信息

Am J Hum Genet. 1992 Aug;51(2):432-9.

PMID:1642243
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682692/
Abstract

We have used a combination of classical RFLPs and PCR-based polymorphisms including CA repeats and single-strand conformation polymorphisms to generate a fine-structure genetic map of the distal long arm of chromosome 4q. This map is now genetically linked to the pre-existing anchor map of 4pter-4q31 and generates, for the first time, a complete linkage map of this chromosome. The map consists of 32 anchor loci placed with odds of greater than 1,000:1. The high-resolution map in the cytogenetic region surrounding 4q35 provides the order 4cen-D4S171-F11-D4S187-D4S163-D4S139-4q ter. When we used somatic cell hybrids from a t(X;4)(p21;q35) translocation, these five markers fell into three groups consistent with the genetic map-D4S171 and F11 in 4pter-4q35, D4S163 and D4S139 in 4q35-4qter, and D4S187 as a junction fragment between these two regions. These markers are in tight linkage to the gene for facioscapulo-humeral muscular dystrophy (FSHD) mapped to this region by several collaborating investigators and provide a framework for further detailed analysis of this region.

摘要

我们使用了经典的限制性片段长度多态性（RFLP）和基于聚合酶链反应（PCR）的多态性，包括CA重复序列和单链构象多态性，来构建4号染色体长臂远端的精细结构遗传图谱。该图谱现已与先前存在的4pter - 4q31锚定图谱建立了遗传联系，并首次生成了这条染色体的完整连锁图谱。该图谱由32个锚定基因座组成，其定位的优势比大于1000:1。4q35周围细胞遗传学区域的高分辨率图谱显示顺序为4cen - D4S171 - F11 - D4S187 - D4S163 - D4S139 - 4q ter。当我们使用来自t(X;4)(p21;q35)易位的体细胞杂种时，这五个标记分为三组，与遗传图谱一致——4pter - 4q35中的D4S171和F11，4q35 - 4qter中的D4S163和D4S139，以及作为这两个区域之间连接片段的D4S187。这些标记与面肩肱型肌营养不良症（FSHD）的基因紧密连锁，该基因已由几位合作研究者定位到这个区域，并为该区域的进一步详细分析提供了框架。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/177f/1682692/742c1dc931da/ajhg00066-0210-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/177f/1682692/742c1dc931da/ajhg00066-0210-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/177f/1682692/742c1dc931da/ajhg00066-0210-a.jpg

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1
Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD).4号染色体上的遗传和物理图谱缩小了面肩肱型肌营养不良症（FSHD）基因的定位范围。
Am J Hum Genet. 1992 Aug;51(2):432-9.
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A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD).4号染色体长臂远端15个基因座的辐射杂种图谱，该区域包含导致面肩肱型肌营养不良症（FSHD）的基因。
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The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.人类骨骼肌腺嘌呤核苷酸转运体基因定位于4号染色体长臂3区5带，即面肩肱型肌营养不良症基因座所在区域。
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The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.与面肩肱型肌营养不良相关的DNA重排涉及一种异染色质相关的重复元件：对染色质结构在该疾病发病机制中的作用的启示。
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