Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis.
- Author:
Yong-an ZHOU
1
;
Wei-hua GAO
;
Jian-ping YANG
;
Quan-bin ZHANG
;
Gai-xiu ZHANG
;
Jian-ping LIU
;
Yun-xia MA
;
Xiao-gang ZHANG
;
Liang YU
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; Child; Child, Preschool; DNA Mutational Analysis; methods; Exons; Female; Humans; Infant; Infant, Newborn; Male; Mutation; Nucleic Acid Amplification Techniques; methods; Nucleic Acid Denaturation; Phenylalanine Hydroxylase; genetics; Phenylketonurias; diagnosis; genetics; Transition Temperature
- From: Chinese Journal of Medical Genetics 2012;29(6):683-685
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo establish a simple, rapid, inexpensive and sensitive method for detecting hot region for mutations in exon 7 of PAH gene.
METHODSHigh-resolution melting (HRM) technology was used to detect a c.728G>A mutation in exon 7 in 88 patients with classical type phenylketonuria. Suspected mutations were validated by direct DNA sequencing.
RESULTSThe results detected by HRM are in good agreement with the results obtained by direct sequencing.
CONCLUSIONHRM analysis is a simple, rapid, inexpensive and sensitive method for detecting hot mutational region in exon 7 of PAH gene.
