title: [Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism].
abstract: OBJECTIVE
  To analyze the mutation of the KAL1 gene in male patients with idiopathic hypogonadotropic hypogonadism (IHH).
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Center of Reproductive Medicine, The First Hospital of Jilin University, Changchun, Jilin 130021, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Ma
authors.forename: Zhao-zhi
authors.initials: ZZ
authors.lastname: Jiang
authors.forename: Xue-fu
authors.initials: XF
authors.lastname: Li
authors.forename: Xin
authors.initials: X
authors.lastname: Yun
authors.forename: Chao
authors.initials: C
authors.lastname: Fu
authors.forename: Rui-zhi
authors.initials: RZ
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D017436:Kallmann Syndrome / Q000235:genetics; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D055815:Young Adult
chemical_list: C076266:ANOS1 protein, human; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins