将250个黏粒和26个酵母人工染色体克隆定位到4号染色体上的鱼类定位研究，特别着重于4q35的面肩肱型肌营养不良症区域。

Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35.

作者信息

Wijmenga C, Dauwerse H G, Padberg G W, Meyer N, Murray J C, Mills K, van Ommen G B, Hofker M H, Frants R R

机构信息

MGC-Department of Human Genetics, Leiden University, The Netherlands.

出版信息

Muscle Nerve Suppl. 1995;2:S14-8.

PMID:7739620

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is located on chromosome 4q35, close to the telomere. FSHD patients carry deletions within a cluster of tandemly repeated DNA. Although expression of a functional FSHD gene will be altered in patients, the sequence itself may be unaffected by this deletion. Hence, the FSHD gene could lie outside of the deleted region. This study employs fluorescent in situ hybridization using chromosome 4-specific cosmid and YAC clones to rapidly saturate chromosome 4 with new markers. Some 250 cosmids and 26 YACs were regionally mapped, of which 5 YACs and 55 cosmids mapped to the distal portion of 4q. Only one of these clones (D4S1454) mapped telomerically to a translocation breakpoint specified by D4S187. Using two-color interphase mapping, the following marker order was obtained: Cen-D4S187-D4S1454-HSPCAL2-D4S163-D4S139-+ ++D4F35S1. Absence of additional markers mapping distal to D4F35S1 indicates that the linkage group containing the FSHD gene lies extremely close to the 4q telomere.

摘要

面肩肱型肌营养不良症（FSHD）定位于4号染色体的4q35区域，靠近端粒。FSHD患者在串联重复DNA簇内存在缺失。尽管患者体内功能性FSHD基因的表达会发生改变，但序列本身可能不受此缺失影响。因此，FSHD基因可能位于缺失区域之外。本研究采用荧光原位杂交技术，利用4号染色体特异性黏粒和酵母人工染色体（YAC）克隆，用新标记快速覆盖4号染色体。大约250个黏粒和26个YAC被进行区域定位，其中5个YAC和55个黏粒定位于4q的远端部分。这些克隆中只有一个（D4S1454）在端粒方向定位于由D4S187确定的易位断点处。通过双色间期定位，得到了以下标记顺序：着丝粒-D4S187-D4S1454-HSPCAL2-D4S163-D4S139-++++D4F35S。没有其他标记定位于D4F35S的远端，这表明包含FSHD基因的连锁群非常靠近4q端粒。