Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China

作者：Tang Kai Fa; Wu Qi Fei; Zou Tie Jun; Xue Wei; Wang Xin Yang; Xing Jun Ping^*

来源：Asian Journal of Andrology, 2009, 11(6): 711-715.

DOI：10.1038/aja.2009.52

• Kallmann syndrome 1
• Kallmann syndrome
• normosmic idiopathic hypogonadotropic hypogonadism

We conducted an analysis of the Kallmann syndrome 1 (KAL-1) genotype in 17 patients with Kallmann syndrome (KS), 9 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) and 20 age-matched normal men in Northwestern China. To do this, we used multiplex PCR analysis with exon-flanking primers and automated sequencing techniques with peripheral blood DNA samples. Intragenic deletions were found at the KAL-1 locus in two KS patients. One case with an atrial septal defect exhibited an intragenic deletion of exon 6. Another KS patient with cryptorchidism had intragenic deletions of exons 5 and 6. For the nIHH patients, no abnormalities were observed in the exonic and flanking sequences of KAL-1. This report describes two intragenic deletions of KAL-1 in two KS patients and suggests that KAL-1 deletion might be more prevalent in KS patients with other congenital organ abnormalities than those described previously in other series from Northwestern China.

• 出版日期2009-11
• 单位西安交通大学