[Mutation detection of PKD1 gene in patients with autosomal dominant polycystic kidney diseases].
OBJECTIVE
To detect gene mutation in the patients with autosomal dominant polycystic kidney disease (PKD).


METHODS
Polymerase chain reaction (PCR)-denaturing high-performance liquid chromatography (DHPLC) analyses were performed in 3o single copy region of PKD 1 gene (PKD1). DNA sequencing were carried out on PCR products with abnormal peak shape afterwards.


RESULTS
A new nonsense mutation (C11901A in exon 42 of PKD1 was identified to cause serine in position 3897 turning to a stop codon. A missense mutation, C10737T, was detected in exon 35 which caused threonine in position 3509 turn to methionine. Two kinds of samesense mutation, G11824A and C11860T in exon 42, were found in normal control.


CONCLUSIONS
PKD1 mutation were detected successfully by PCR-DHPLC. A new nonsense mutation, a missense mutation and two polymorphisms are identified in this study.
Li
Li
L
Human Peproductive and Stem Cell Engineering Institute, Xiangya School of Medicine, Central South University Changsha, Hunan, 410078 PR China.
Li
Lu-yun
LY
Zhong
Chang-gao
CG
Gao
Bo-di
BD
Lu
Guang-xiu
GX
D000328:Adult; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D007690:Polycystic Kidney Diseases / Q000235:genetics; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D050396:TRPP Cation Channels / Q000235:genetics*; D055815:Young Adult
D018389:Codon, Nonsense; D050396:TRPP Cation Channels