| چکیده انگلیسی مقاله |
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inheritance pattern. However, autosomal dominant or recessive and sporadic cases have also been reported. KAL1 is the most common mutated gene among these patients. The aim of this study was to determine the mutation spectrum of KAL1 gene in twenty patients. KAL1 exons were amplified by PCR technique and the products were assessed by high resolution melting (HRM) technique. In addition, for one of the patients, all coding exons of the KAL1 gene were sequenced. Deletion of exons 4, 5 and 6 were evident in 5%, 10%, and 10% of patients, respectively. Furthermore, HRM results showed hemizygous mutation of exon 12 with more than 95% probability in 25% of patients. Finding these mutations could be helpful in the early diagnosis and presymptomic treatment of Kallman syndrome. |
| نویسندگان مقاله |
عاطفه احمدزاده | atefeh ahmadzadeh
department of medical genetics, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
الهه قدس | elahe ghods
department of medical genetics, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
مجید مجرد | majid mojarrad
department of medical genetics, medical school, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
رباب ابوترابی | robab aboutorabi
department of endocrinology ghaem hospital, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
مژگان افخمی زاده | mojgan afkhamizadeh
department of endocrinology ghaem hospital, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
شکوفه بنکداران | shokoofeh bonakdaran
department of endocrinology ghaem hospital, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
زهره موسوی | zohreh mosavi
department of endocrinology ghaem hospital, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
سید مرتضی تقوی | seyed morteza taghavi
department of endocrinology ghaem hospital, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
محمد حسن زاده nazarabadi | mohammad hassanzadeh nazarabadi
department of medical genetics, medical school, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
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