肺泡微结石症1例家系基因分析

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Abstract 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.

Key words： Pulmonary alveolar microlithiasis SLC34A2 Gene testing Autosomal recessive inheritance Gene mutation

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	Articles by authors
	HU Qiufang
	ZHANG Juan
	SHENG Tianxin
	YANG Xiaodong
	CHEN Sihan

Cite this article:

HU Qiufang,ZHANG Juan,SHENG Tianxin, et al. Gene analysis of a family with alveolar microlithiasis[J]. 中国当代医药, 2022, 29(7): 143-146.

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https://www.dangdaiyiyao.com/EN/ OR https://www.dangdaiyiyao.com/EN/Y2022/V29/I7/143

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