一个肺泡微结石症家系中SLC34A2基因的新突变
일개폐포미결석증가계중SLC34A2기인적신돌변
A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis
  • 万方数据
    中华医学遗传学杂志 중화의학유전학잡지
    CHINESE JOURNAL OF MEDICAL GENETICS
    2009年 4期 365-368 ,共4页

    钟有清%胡成平%蔡兴东%聂华萍

    종유청%호성평%채흥동%섭화평

    肺泡微结石症%SLC34A2基因%突变%单核苷酸多态性 肺泡微結石癥%SLC34A2基因%突變%單覈苷痠多態性
    폐포미결석증%SLC34A2기인%돌변%단핵감산다태성
    pulmonary alveolar microlithiasis%SLC34A2 gene%mutation%single nucleotide polymorphism
    子.此外在2例患者及先证者女儿的第2内含子发现一纯合性单核苷酸多态.结论 本家系中患者SLC34A2基因第8外显子出现新的纯合突变,提前出现终止密码子,编码截短蛋白,导致发病.所发现的第2内含子多态性意义有待深入研究.
    자.차외재2례환자급선증자녀인적제2내함자발현일순합성단핵감산다태.결론 본가계중환자SLC34A2기인제8외현자출현신적순합돌변,제전출현종지밀마자,편마절단단백,도치발병.소발현적제2내함자다태성의의유대심입연구.
    SLC34A2 gene, leading to a premature stop codon therefore a truncated protein, was probably responsible for the PAM in this family. The SNP in intron 2 needs further study.
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