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Information Journal Paper

Title

STUDY ON KAL1 GENE MUTATIONS IN IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM PATIENTS WITH X-LINKED RECESSIVE INHERITANCE

Pages

  152-159

Abstract

 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 method 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.

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    APA: Copy

    AHMADZADEH, ATEFEH, GHODS, ELAHE, MOJARRAD, MAJID, ABOUTORABI, ROBAB, AFKHAMIZADEH, MOJGAN, BONAKDARAN, SHOKOOFEH, MOSAVI, ZOHREH, TAGHAVI, SEYED MORTEZA, & HASSANZADEH NAZARABADI, MOHAMMAD. (2015). STUDY ON KAL1 GENE MUTATIONS IN IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM PATIENTS WITH X-LINKED RECESSIVE INHERITANCE. INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE, 4(3), 152-159. SID. https://sid.ir/paper/332134/en

    Vancouver: Copy

    AHMADZADEH ATEFEH, GHODS ELAHE, MOJARRAD MAJID, ABOUTORABI ROBAB, AFKHAMIZADEH MOJGAN, BONAKDARAN SHOKOOFEH, MOSAVI ZOHREH, TAGHAVI SEYED MORTEZA, HASSANZADEH NAZARABADI MOHAMMAD. STUDY ON KAL1 GENE MUTATIONS IN IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM PATIENTS WITH X-LINKED RECESSIVE INHERITANCE. INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE[Internet]. 2015;4(3):152-159. Available from: https://sid.ir/paper/332134/en

    IEEE: Copy

    ATEFEH AHMADZADEH, ELAHE GHODS, MAJID MOJARRAD, ROBAB ABOUTORABI, MOJGAN AFKHAMIZADEH, SHOKOOFEH BONAKDARAN, ZOHREH MOSAVI, SEYED MORTEZA TAGHAVI, and MOHAMMAD HASSANZADEH NAZARABADI, “STUDY ON KAL1 GENE MUTATIONS IN IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM PATIENTS WITH X-LINKED RECESSIVE INHERITANCE,” INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE, vol. 4, no. 3, pp. 152–159, 2015, [Online]. Available: https://sid.ir/paper/332134/en

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