Paper Information

Journal:   INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY   SUMMER 2012 , Volume 6 , Number SUPPLEMENT 1; Page(s) 119 To 120.
 
Paper: 

THE STUDY OF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE MUTATIONS AND POLYMORPHISMS IN IRANIAN PATIENTS WITH MAYER ROKITANSKY KUSTER HAUSER SYNDROME

 
 
Author(s):  ASADI F.*, MIRFAKHRAI R., HASHEMIAN E.
 
* BASIC SCIENCES, AZAD UNIVERSITY, IZEH BRANCH, IZEH, IRAN
 
Abstract: 
Background: Mayer - Rokitansky -Kuster - Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype.
Congenital anomaly of the female genital tract, estimated to occur in approximately 1 in every 5, 000 females.
It is caused by a failure of development of the caudal portion of the embryonic paramesonephric (Mullerian).
Because the embryologic development of the Müllerian ducts directly depends on the prior normal development of the Wolffian ducts, the same gene products may be necessary for normal embryologic development of both ductal systems.
CFTR mutations have previously been associated with congenital bilateral absence of the vas deferens (CBAVD). CBAVD is caused by a disruption in the vas deferens, a Wolffian duct derivative. This study evaluated the role of CFTR mutations in patients with MRKH syndrome.
Materials and Methods: DNA samples of 15 females with MRKH syndrome and 15 health females (control group) were tested for common mutations of CFTR gene including (DF508, G542X, N1303K, W1282X, G551D) by ARMS-PCR and IVS8-Tn polymorphism by using RFLPPCR were analyzed.
Results: No mutation and polymorphism was found in s and normal samples.
׳patient Conclusion: We only detected most common (DF508, G542X, N1303K, G551D, W1282X) of this gene in patients, could not find An association between CFTR gene mutations and MRKH syndrome, Therefore we should all 27 CFTR exons were analyzed to suggest that mutations of this gene could be associated or not.
 
Keyword(s): MRKH SYNDROME, CFTR GENE, ARMS-PCR
 
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