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[1]路榮梅 李錦新 李連濤 陳 剛 溫俊平.10例Gitelman綜合征患者臨床表現(xiàn)特點(diǎn)和基因突變分析[J].福建醫(yī)藥雜志,2020,42(02):24-29.
　LU Rongmei,LI Jinxin,LI Liantao,et al.Analysis of the clinical features and gene mutations of ten patients with Gitelman syndrome[J].FUJIAN MEDICAL JOURNAL,2020,42(02):24-29.
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10例Gitelman綜合征患者臨床表現(xiàn)特點(diǎn)和基因突變分析()
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《福建醫(yī)藥雜志》[ISSN:1002-2600/CN:35-1071/R]

卷:
42
期數(shù):
2020年02期
頁(yè)碼:
24-29
欄目:
臨床研究
出版日期:
2020-04-15

文章信息/Info

Title:
Analysis of the clinical features and gene mutations of ten patients with Gitelman syndrome
文章編號(hào):
1002-2600(2020)02-0024-06
作者:
路榮梅 李錦新 李連濤 陳 剛 溫俊平1
福建省立醫(yī)院內(nèi)分泌科(福州 350001)
Author(s):
LU Rongmei; LI Jinxin; LI Liantao; CHEN Gang; WEN Junping.
Department of Endocrinology, Fujian Provincial Hospital, Fuzhou,Fujian 350001,China
關(guān)鍵詞:
Gitelman綜合征;  臨床表現(xiàn);  基因型;  基因診斷
Keywords:
Gitelman syndrome;  clinical phenotype;  genotype;  genetic diagnosis
分類號(hào):
R446.1
文獻(xiàn)標(biāo)志碼:
A
摘要:
目的 分析Gitelman綜合征(Gitelman syndrome,GS)患者臨床表現(xiàn)特點(diǎn)和基因突變類型。方法 在分析10例GS患者臨床表現(xiàn)和實(shí)驗(yàn)室相關(guān)檢查結(jié)果的基礎(chǔ)上,對(duì)其進(jìn)行GS致病基因——SLC12A3基因突變位點(diǎn)的檢測(cè)。首先在獲得患者知情同意書后抽取其外周血提取基因組DNA,然后通過聚合酶鏈?zhǔn)椒磻?yīng)(polymerase chain reaction,PCR)擴(kuò)增目的基因的26個(gè)外顯子及其側(cè)翼序列,最后采用sanger測(cè)序結(jié)合DNassist序列比對(duì)軟件進(jìn)行序列分析來確定突變位點(diǎn)。結(jié)果 本研究共檢測(cè)出13種致病突變,沒有出現(xiàn)明顯的熱點(diǎn)突變位點(diǎn),其中錯(cuò)義突變8種(61.5%),缺失突變3種(23.1%),內(nèi)含子剪接位點(diǎn)突變2種(15.4%)。10例臨床疑似患者中5例為復(fù)合雜合致病,占比50%; 2例為純合致病,占比20%; 其余3例僅檢出一處雜合致病突變位點(diǎn)。結(jié)論 本研究檢測(cè)到新的突變位點(diǎn)D62G、C146Y,其致病性未見相關(guān)文獻(xiàn)報(bào)道,除此之外,本研究還發(fā)現(xiàn)GS臨床表現(xiàn)與基因型之間并沒有非常明確的關(guān)系,故臨床上目前還不能通過基因型來判斷患者疾病的嚴(yán)重程度和發(fā)展趨勢(shì)。但是,基因診斷仍然是該病診斷的金標(biāo)準(zhǔn),它除了可以確診疾病,還可以實(shí)現(xiàn)疾病的早期篩查和產(chǎn)前的優(yōu)生優(yōu)育。
Abstract:
Objective To analyze the clinical features and gene mutations of Gitelman syndrome.Methods Based on the clinical symptoms and laboratory test results,this study analyzed the mutations of disease-causing gene SLC12A3 in 10 patients with Gitelman syndrome.After getting the informed consent of patients, the genomic DNA of peripheral blood was extracted.The 26 exons and their flanking sequences of SLC12A3 were amplified by polymerase chain reaction(PCR).Sanger sequencing was combined with DNassist sequence alignment software to confirm the mutations.Results In this study, we found 13 kinds of pathogenic mutations altogether.There was no hot spot mutation.There were eight kinds of missense mutations(61.5%), three kinds of deletion mutations(23.1%), and two kinds of splicesite mutations(15.4%).Among the ten clinical suspected patients, five cases were caused by compound heterozygous mutation, accounting for 50%.Two cases were homozygous mutation, accounting for 20%.Only one heterozygous pathogenic mutation was detected in the rest of patients.Conclusion In this study,two new mutation sites, D62G and C146Y, were founded, and their pathogenicity has not been reported.Beyond that,we found the relationship between phenotype and genotype was not clear.So we cant estimate the severity and advancing of the disease according to the genotype.However, genetic diagnosis is also the gold standard for this disease.In addition to diagnose disease, it can also achieve early screening and prenatal diagnosis.

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備注/Memo

備注/Memo:
基金項(xiàng)目:福建省衛(wèi)生計(jì)生委青年課題(2017/1/4)1 通信作者,Email:[email protected]
更新日期/Last Update: 2020-04-15