[面肩肱型肌营养不良症中4号染色体q35区与10号染色体q26区之间的易位]

[Translocation between chromosomes 4q35 and 10q26 in facioscapulohumeral muscular dystrophy].

作者信息

Su Quan-xi, Zhang Cheng, Zeng Ying, Lu Xi-lin, Liu Xiao-rong, Wang Zhan-hang, Zhu Yan-zhen

机构信息

Department of Neurology, First Affiliated Hospital, Zhongshan University, Guangzhou 510080, China.

出版信息

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2003 Oct;25(5):581-4.

PMID:14650163

Abstract

OBJECTIVE

To investigate the distribution of translocation between chromosomes 4q35 and 10q26 in facioscapulohumeral muscular dystrophy (FSHD) patients and normal individuals.

METHODS

The Bgl II-Bln I dosage test was performed to study the distribution of translocation between chromosomes 4q35 and 10q26 in 70 cases of FSHD patients, 55 cases of kindred with FSHD, and 52 cases of normal controls.

RESULTS

(1) In normal individuals, the frequency of translocation between chromosomes 4q35 and 10q26 is 19.23%. The frequency of translocation from chromosome 4q35 to 10q26 and that from chromosome 10q26 to 4q35 are both 9.62%. (2) In the FSHD patients, the frequency of translocation between chromosomes 4q35 and 10q26 is 18.57%. The frequency of translocation from chromosome 4q35 to 10q26 and that from chromosome 10q26 to 4q35 are 12.86% and 5.71% respectively.

CONCLUSIONS

The translocation between chromosomes 4q35 and 10q26 was frequently observed in both normal Chinese population and FSHD patients. No significant difference was observed between them.

摘要

目的

研究4q35与10q26染色体易位在面肩肱型肌营养不良症（FSHD）患者及正常个体中的分布情况。

方法

采用Bgl II - Bln I剂量试验，研究70例FSHD患者、55例FSHD家系成员及52例正常对照者中4q35与10q26染色体易位的分布情况。

结果

（1）在正常个体中，4q35与10q26染色体易位频率为19.23%。从4q35到10q26以及从10q26到4q35的易位频率均为9.62%。（2）在FSHD患者中，4q35与10q26染色体易位频率为18.57%。从4q35到10q26的易位频率为12.86%，从10q26到4q35的易位频率为5.71%。