肺泡微石症患者1例基因测序及文献复习  

Gene sequencing study of one patient with pulmonary alveolar microlithiasis and review of literature

作　　者：王洪冰[1] 丁勇[1] 张亚同[1] 杨重庆[1] 孙铁英[1] 

机构地区：[1]卫生部北京医院呼吸科,100730

出　　处：《国际呼吸杂志》2011年第14期1064-1066,F0003,共4页International Journal of Respiration

摘　　要：目的通过对1例肺泡微石症（PAM）患者的诊断，并对其SLC34A2基因测序分析，查找可能导致陔病发生的基因突变序列，斤查阅相关文献进行复习。方法患者男性，其父母为近亲结婚，慢性病程．绎临床、影像学检佥疑诊PAM，经支气管镜肺活检病理确诊。提取外周血作基凶检测，对基因SLC34A2外显子进行扩增、测序和分析。结果成功扩增2～13号外显子，DNA测序结果显示2个纯合子突变SNP：内含子2中纯合突变rs4697597和外显子8纯合突变（c．A910T）。rs4697597功能分析未发现与SLC34A2的转录和翻译相关。外显子8纯合突变导致转录赖氨酸的密码子AAA突变为终止密码子TAA，可能导致SLC34A2功能缺失。结论该患者为近亲结婚后裔，位于外显子8的SNP纯合突变可能是致使患者发生PAM的变异位点。Objective To find the gene mutation sequence related to pulmonary alveolar microlithiasis （PAM） by the diagnosis of one patient with PAM gene,and to review sequencing SLC34A2 literatures. Methods A male patient from a consanguineous family was suspectedly diagnosed as PAM by clinical and imaging examinations,and was pathologically confirmed by transbronchial lung biopsy. Peripheral blood was taken for genetic testing,and gene SLC34A2 exons were amplified, sequenced, and analyzed. Results Exon 2-13 of SLC34A2 was successfully amplified. DNA bowed that two homozygous SNP were found,one was C/T in intron 2 named rs as A/T in exon 8 （c. A910T）. rs4697597 with lysine change into This patient is a analysis showed and translation of SLC34A2. Exon 8 stop codon TAA, which might result descendant of consanguineous marriage, that made 4697597, and there was no codon AAA in disfunction of SLC34A2. and the mutation in exon 8 of SLC3lA2 maybe the reason of the PAM occuranee.

关 键 词：肺泡微石症 SLC34A2 基因突变 

分 类 号：R563.9[医药卫生—呼吸系统]