Zhong You-qing, Hu Cheng-ping, Cai Xing-dong, Nie Hua-ping
Department of Respiratory Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Aug;26(4):365-8.
To identify the mutation of solute carrier family 34 member 2 (SLC34A2) gene in a Chinese family with pulmonary alveolar microlithiasis (PAM).
Genomic DNA was extracted from the family members. DNA sequencing was carried out to confirm the mutation detected by polymerase chain reaction-single strand conformation polymorphisms (PCR-SSCP). The fragments with variation were screened in 100 healthy controls by PCR-SSCP.
In both patients of the family, a homozygous mutation of the SLC34A2 gene was identified in exon 8 (c.A910T), resulting in a premature stop codon. In addition, a homozygous single nucleotide polymorphism (SNP) was found in intron 2 in both patients and the daughter of proband.
A novel homozygous mutation in 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.
鉴定一个肺泡微石症（PAM）中国家系中溶质载体家族34成员2（SLC34A2）基因的突变情况。
从该家系成员中提取基因组DNA。进行DNA测序以确认通过聚合酶链反应-单链构象多态性（PCR-SSCP）检测到的突变。通过PCR-SSCP在100名健康对照中筛选有变异的片段。
在该家系的两名患者中，均在第8外显子中鉴定出SLC34A2基因的纯合突变（c.A910T），导致提前出现终止密码子。此外，在两名患者及先证者女儿的第2内含子中均发现了一个纯合单核苷酸多态性（SNP）。
SLC34A2基因中的一种新型纯合突变导致提前出现终止密码子，从而产生截短的蛋白质，可能是该家系中PAM的病因。第2内含子中的SNP需要进一步研究。
