Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia.
- Author:
Zhanling CHEN
1
;
Pengqiang WEN
;
Guobing WANG
;
Yuhui HU
;
Xiaohong LIU
;
Li CHEN
;
Shuli CHEN
;
Lisheng WAN
;
Dong CUI
;
Yue SHANG
;
Chengrong LI
Author Information
- Publication Type:Journal Article
- MeSH: Child, Preschool; Female; Humans; Infant; Male; Methylmalonyl-CoA Decarboxylase; genetics; Mutation; Propionic Acidemia; genetics
- From: Chinese Journal of Medical Genetics 2015;32(1):26-30
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA).
METHODSGenomic DNA was extracted from peripheral blood leukocytes. The 39 exons and flanking sequences of the PCCA and PCCB genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.
RESULTSDNA sequencing has revealed that 7 patients have carried a PCCA gene mutation, 2 patients carried PCCB gene mutation and 1 patient carried mutations in both PCCA and PCCB genes. Ten PA mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene. Three PCCA mutations c.245G>A, IVS15+5del5, c.1288C>T and 2 PCCB mutations c.838insC, c.1087T>C were found for the first time.
CONCLUSIONAmong Chinese patients with propionic acidemia patients, their genetic mutations are mainly found on the PCCA gene.
