通过微卫星分析和定量聚合酶链反应对内含子和/或外显子缺失型杜氏肌营养不良症进行携带者基因诊断
[Carrier genetic diagnosis of intron and/or exon-deletion Duchenne muscular dystrophy by microsatellite analysis and quantitative polymerase chain reaction].
作者信息
Huang Wen, Zhang Cheng, Xie You-mei, Chen Song-lin, Zhang Wei-xi, Yao Xiao-li, Zeng Ying, Lu Xi-lin
机构信息
Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510080 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Feb;24(1):72-5.
OBJECTIVE
To detect the female carriers from the intron and/or exon-deletion Duchenne/Becker musclular dystrophy (DMD) familial members for prenatal or preimplantation genetic diagnosis.
METHODS
Using method of PCR to five microsatellite markers (located in 5' terminus and intron 44, 45, 49, 50), analysing of the short tandem repeat sequence polymorphism with the genescan and binding with the quantitative polymerase chain reaction, we detected the DMD carriers from 1 intron and exon -deletion family and 1 intron-deletion family.
RESULTS
The STR-50 genotype of II 2 in family 5 was 245/245, so II3 is DMD gene carrier. The STR-45 genotype of II6 and II8 were del/172, III19 was del/178, so they were all DMD gene carriers.
CONCLUSION
The STR haploid linkage analysis combined with quantitative polymerase chain reaction is accurate and efficient to detect the female carriers from the intron and/or exon-deletion DMD familial members.
目的
从内含子和/或外显子缺失型杜氏/贝克型肌营养不良（DMD）家系成员中检测女性携带者，用于产前或植入前基因诊断。
方法
运用聚合酶链反应（PCR）方法检测五个微卫星标记（位于5'端以及内含子44、45、49、50），通过基因扫描分析短串联重复序列多态性，并结合定量聚合酶链反应，从1个内含子和外显子缺失家系以及1个内含子缺失家系中检测DMD携带者。
结果
家系5中II 2的STR - 50基因型为245/245，所以II3是DMD基因携带者。家系6中II6和II8以及家系8中III19的STR - 45基因型均为del/172和del/178，所以他们都是DMD基因携带者。
结论
STR单倍型连锁分析结合定量聚合酶链反应可准确、高效地从内含子和/或外显子缺失型DMD家系成员中检测女性携带者。
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