Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism / 中华男科学杂志
National Journal of Andrology
;
(12): 32-37, 2011.
Article
in Chinese
| WPRIM
| ID: wpr-266216
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the mutation of the KAL1 gene in male patients with idiopathic hypogonadotropic hypogonadism (IHH).</p><p><b>METHODS</b>We 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.</p><p><b>RESULTS</b>Three 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).</p><p><b>CONCLUSION</b>Of 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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Base Sequence
/
Exons
/
Extracellular Matrix Proteins
/
Kallmann Syndrome
/
Polymorphism, Single-Stranded Conformational
/
Genetics
/
Hypogonadism
/
Mutation
/
Nerve Tissue Proteins
Limits:
Adolescent
/
Adult
/
Child
/
Humans
/
Male
Language:
Chinese
Journal:
National Journal of Andrology
Year:
2011
Type:
Article
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