肺泡微结石症1例家系基因分析  

Gene analysis of a family with alveolar microlithiasis

作　　者：胡秋芳[1] 张娟 盛天昕[1] 杨小东[3] 陈司汉[1] HU Qiufang;ZHANG Juan;SHENG Tianxin;YANG Xiaodong;CHEN Sihan(Department of Medicine,Leshan Institute of Vocational Technology,Sichuan Province,Leshan 614000,China;Department of Respiratory Medicine,Deyang People′s Hospital,Sichuan Province,Deyang618000,China;Department of Respiratory Medicine,Sichuan University Hwaseo Hospital,Sichuan Province,Chengdu 614000,China)

机构地区：[1]乐山职业技术学院医护系,四川乐山614000 [2]四川省德阳市人民医院呼吸内科,四川德阳618000 [3]四川大学华西医院呼吸内科,四川成都614000

出　　处：《中国当代医药》2022年第7期143-146,共4页China Modern Medicine

基　　金：四川省教育厅重点项目(18ZA0249)。

摘　　要：肺泡微结石症(PAM)是一种罕见的肺部疾病,以磷酸钙盐颗粒在双肺肺泡内沉积为特征。目前研究发现PAM有家族遗传倾向,多呈常染色体隐性遗传方式发病,其中以磷酸钠协同转运蛋白抗原(SLC34A2)基因突变为主,但文献报道的基因突变位点各国略有不同,为进一步探讨中国PAM患者基因突变情况,本研究收集了1例PAM患者的临床资料及家系成员的外周血,应用聚合酶链式反应结合DNA测序法对家系成员进行SLC34A2基因突变检测,结果发现患者与父亲有SLC34A2基因外显子8突变,即c.910A>T(p.K304X);患者与母亲有SNP位点2个突变即外显子13的3′-UTR区和内含子12 c.1363T>C(p.Y455H)同时出现突变。SNP的两个位点同时突变属于新的突变类型,目前文献中尚未报道。中国PAM患者突变位点更倾向于外显子8,是否存在SLC34A2复合杂合突变致病的可能有待进一步研究。Pulmonary alveolar microlithiasis(PAM)is a rarely occurred pulmonary disorder characterized by precipitation of granules of calcium phosphate in bilateral pulmonary alveoli.Recent studies showed PAM has a familial hereditary preference,mostly is autosomal recessive,of them,mutation of solute carrier family 34 member 2(SLC34A2)is dominant,but the mutation spot is different with countries,for further discussing about the gene mutation in Chinese PAM patients,the clinical data of 1 PAM patient and the peripheral blood samples of his pedigree were collected and tested with PCR and DNA sequencing on SLC34A2 mutation.The results showed a mutation c.910A>T(p.K304X)on exon 8 of SLC34A2 in the patient and his father,and mutations simultaneously on 2 SNP sites,i.e.,on the 3′-UTR region of exon 13 and c.1363T>C(p.Y455H)on intron 12,in the patient and his mother.Mutations simultaneously on 2 SNP sites are a newly-detected pattern which is not reported in the literature,the mutation spot in Chinese PAM patients prefers on exon 8,further investigation is needed to observe the possibility of etiology caused by pathogenic compound heterozygous mutations.

关 键 词：肺泡微结石症 SLC34A2 基因检测 常染色体隐性遗传 基因突变 

分 类 号：R563[医药卫生—呼吸系统]