A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis.
- Author:
You-qing ZHONG
1
;
Cheng-ping HU
;
Xing-dong CAI
;
Hua-ping NIE
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Case-Control Studies; Exons; Female; Humans; Lung Diseases; genetics; Molecular Sequence Data; Mutation; Pedigree; Sodium-Phosphate Cotransporter Proteins, Type IIb; genetics
- From: Chinese Journal of Medical Genetics 2009;26(4):365-368
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the mutation of solute carrier family 34 member 2 (SLC34A2) gene in a Chinese family with pulmonary alveolar microlithiasis (PAM).
METHODSGenomic 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.
RESULTSIn 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.
CONCLUSIONA 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.
