[1]路荣忠,许晓松,孙克涛.色素失禁症患者一家系NEMO基因序列检测分析[J].现代检验医学杂志,2018,33(05):42-45.[doi:10.3969/j.issn.1671-7414.2018.05.012]
　LU Rong-zhong,XU Xiao-song,SUN Ke-tao.Detection and Analysis of NEMO Sequence in a Family of Incontinentia Pigmenti[J].Journal of Modern Laboratory Medicine,2018,33(05):42-45.[doi:10.3969/j.issn.1671-7414.2018.05.012]
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色素失禁症患者一家系NEMO基因序列检测分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第33卷
期数:
2018年05期
页码:
42-45
栏目:
论著
出版日期:
2018-11-18

文章信息/Info

Title:
Detection and Analysis of NEMO Sequence in a Family of Incontinentia Pigmenti
文章编号:
1671-7414(2018)05-042-04
作者:
路荣忠1; 许晓松2; 孙克涛1
1.淄博市中心医院,山东淄博 255031; 2.山东百福基因科技有限公司,山东淄博 255000
Author(s):
LU Rong-zhong1; XU Xiao-song2; SUN Ke-tao1
1.Central Hospital of Zibo,Shandong Zibo 255031,China; 2.Shandong Baifu Gene Technology Co.,Ltd,Shandong Zibo 255000,China
关键词:
色素失禁症;  NEMO基因;  ΔNEMO假基因;  基因缺失
分类号:
R758.5; R446.7
DOI:
10.3969/j.issn.1671-7414.2018.05.012
文献标志码:
A
摘要:
目的 用跨越断裂点PCR方法对色素失禁症患者一家系的NEMO基因序列进行检测分析。方法 收集该色素失禁症患者一家系成员的临床症状及家族史,并提取其外周血DNA,运用跨越断裂点的PCR方法分别扩增NEMO基因及ΔNEMO假基因序列,通过琼脂糖凝胶电泳和测序对上述基因序列进行检测分析,同时对1例与该家系无血缘且身体健康的对照者进行同样检测分析。结果 琼脂糖凝胶电泳及测序结果显示,2.5岁先证者及其母亲、外祖母均存在NEMO基因外显子4-10特异性缺失,其他家系成员及无血缘健康对照者均未检测到NEMO基因缺失。所有家系成员及无血缘健康对照者均未检测到△NEMO基因缺失。结论 NEMO基因外显子4-10缺失是该先证者的致病基因突变。跨越断裂点PCR扩增技术可用于检测色素失禁症NEMO基因突变,具有一定的推广和应用价值。
Abstract:
Objective To detect and analyze the NEMO sequence of a pigmented incontinence family by PCR method across the break point.Methods The clinical symptoms and family history of the family members were collected,and the peripheral blood DNA was extracted.The specific deletion of NEMO gene or delta NEMO pseudogenes was amplified by PCR method across the break point,and analyzed by agarose gel electrophoresis and sequencing analysis,the same analysis was performed on a healthy control who was not related to the family.Results 2.5 year old proband and hermother,grandmother,there were NEMO gene deletion of exon 4-10,other familymembers and non-blood healthy control were not detected in the absence of NEMO.All family members and non-blood healthy control were not detectedin the absence of △NEMO.Conclusion The deletion of exon 4-10 of NEMO gene is the mutation of the pathogenetic gene of the precursor.The PCR method across the break point can be used to detect the mutation of NEMO gene of pigment incontinence,which has certain value of promotion and application.

参考文献/References:

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备注/Memo

备注/Memo:
作者简介:路荣忠(1964-),男,医学硕士,副主任技师,研究方向:分子生物学和血液病诊断与检测,E-mail:zblrz@126.com。
更新日期/Last Update: 2018-09-30