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[A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis].

[Article in Chinese]

Author information

1
Department of Respiratory Medicine, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P.R. China.

Abstract

OBJECTIVE:

To identify the mutation of solute carrier family 34 member 2 (SLC34A2) gene in a Chinese family with pulmonary alveolar microlithiasis (PAM).

METHODS:

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.

RESULTS:

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.

CONCLUSION:

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.

PMID:
20017296
[Indexed for MEDLINE]
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