应用PCR和FISH方法诊断X-连锁隐性鱼鳞病3例

发布时间：2018-03-21 08:57

本文选题：X连锁隐性鱼鳞病　切入点：STS基因　出处：《安徽医科大学学报》2016年12期 　论文类型：期刊论文

【摘要】：应用多聚酶链反应(PCR)和荧光原位杂交(FISH)方法对3例X-连锁隐性鱼鳞病(XLRI)患者进行分子诊断。对2个X-连锁隐性鱼鳞病家系3例患者及家族成员采集外周血标本后,先采用PCR扩增STS基因的两末端序列及侧翼的微卫星标记;再应用c DNA STS基因特异性探针对间期白细胞核进行FISH检测。选取X染色体上自DXS1139至DXF22S1区域内7个微卫星标记进行PCR扩增以确定DNA缺失大小。PCR检测STS基因两端序列结果没有扩增产物。FISH方法也证实了患者STS基因DNA序列存在缺失。应用多态性微卫星序列进行PCR扩增,结果表明患者存在X染色体上STS基因及其侧翼序列,自DXS1139至DXF22S1区域内,DNA缺失达1.97 Mb。PCR和FISH方法证实XLRI患者STS基因及其两侧翼序列DNA缺失,具有重要的遗传咨询意义。
[Abstract]:Polymerase chain reaction (PCR) and fluorescence in situ hybridization (fish) were used to diagnose 3 patients with X- linked recessive ichthyosis. Peripheral blood samples were collected from 3 patients with X- linked recessive ichthyosis and their family members. The two-terminal sequence of STS gene and microsatellite marker of flank were amplified by PCR. Then the interphase white nucleus was detected by FISH with the specific probe of c DNA STS gene. Seven microsatellite markers from DXS1139 to DXF22S1 on X chromosome were selected for PCR amplification to determine the size of DNA deletion. PCR was used to detect the sequence of both ends of STS gene. Results No amplification product. Fish method also confirmed the deletion of DNA sequence of STS gene in patients. The polymorphic microsatellite sequence was used to amplify PCR. The results showed that the STS gene and its flanking sequence existed on X chromosome. The deletion of STS gene and its flanking flanking sequence from DXS1139 to DXF22S1 region was 1.97 Mb.PCR and FISH method was used to confirm DNA deletion of STS gene and its flanking sequence in XLRI patients.
【作者单位】：温州医学院附属第一医院皮肤科;
【基金】：温州科学技术局课题(编号:Y20140576) 国家自然科学基金(编号:81272987)
【分类号】：R758.52

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