|
Volume 11, Issue 6 (November 2009) 11, 711–715; 10.1038/aja.2009.52
Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China
Kai-Fa Tang1, Qi-Fei Wu2, Tie-Jun Zou1, Wei Xue1, Xin-Yang Wang1 and Jun-Ping Xing1
1 Department of Urology, The First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an 710061,China
2 Department of Hepatobiliary Surgery, The First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an 710061, China
Correspondence: Dr Jun-Ping Xing,xingjpcn@gmail.com
Received 10 January 2009; Revised 22 June 2009; Accepted 21 July 2009; Published online 7 September 2009.
| Abstract |
|
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.
Keywords: Kallmann syndrome 1, Kallmann syndrome, normosmic idiopathic hypogonadotropic hypogonadism
PDF |
PDF |
中文摘要 |
|
| |
| Browse: 3262 |
|
