Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism.
- Author:
Chao MA
1
;
Zhao-zhi JIANG
;
Xue-fu LI
;
Xin YUN
;
Chao FU
;
Rui-zhi LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Base Sequence; Child; DNA Mutational Analysis; Exons; Extracellular Matrix Proteins; genetics; Humans; Hypogonadism; genetics; Kallmann Syndrome; genetics; Male; Mutation; Nerve Tissue Proteins; genetics; Polymorphism, Single-Stranded Conformational; Young Adult
- From: National Journal of Andrology 2011;17(1):32-37
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the mutation of the KAL1 gene in male patients with idiopathic hypogonadotropic hypogonadism (IHH).
METHODSWe analyzed the exon mutation of the KAL1 gene in 30 IHH patients using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with the PCR product direct sequencing technique.
RESULTSThree cases of the KAL1 gene mutation were found among the total number of patients, including 1 case of nonsense mutation (c. 1270C > T,p. R424X), and 2 cases of frameshift mutation, (c. 279_280delAG,p. G94fs) and (c. 1886_1887delTT,p. L629fs).
CONCLUSIONOf the 3 cases of the KAL1 gene mutation we detected, 2 are new and 1 already reported in the literature. The results of our study have provided valuable information on the molecular genetics of the IHH syndrome.
