Journal of Basic Research in Medical Sciences
مجله ی تحقیقات پایه در علوم پزشکی
Journal of Basic Research in Medical Sciences
Medical Sciences
http://jbrms.medilam.ac.ir
1
admin
2383-0506
2383-0972
doi
en
jalali
1394
12
1
gregorian
2016
3
1
3
2
online
1
fulltext
en
A survey of patients with mental retardation of unknown origin
Genetics
Genetics
پژوهشي
Research
<div dir="ltr">
<p style="text-align: justify;"><strong>Introduction: </strong>Fragile X syndrome (FXS) is one of the most prevalent genetic causes of developmental disability, representing the most frequent form of inherited severe cognitive deficit. The present study was undertaken to investigate FXS and its prevalence in moderate mentally retarded people in patients.</p>
<p style="text-align: justify;"><strong>Materials and methods:</strong> Nineteen people with moderate mental retardation (MR) who were clinically suspicious to have FXS were screened for FXS by using cytogenetic and molecular methods. Blood samples were collected and cultured in specific culture media. G-Banding method was used for karyotyping. To ensure correct results of cytogenetic testing, four suspected case of FXS were tested by PCR. Results were analyzed using logistic regression analysis.</p>
<p style="text-align: justify;"><strong>Results: </strong>Four patients (4%) were found to express fragile X site at q27.3. The results showed that the relationship of FXS with familial, economic status was not significant, but the relationship of FXS with MR and family history was significant.</p>
<p style="text-align: justify;"><strong>Conclusion:</strong> The frequency of FXS positive cases found in this study is similar to other reports of FXS in preselected patients.</p>
</div>
MR, FXS, FMR1, Cytogenetic
53
57
http://jbrms.medilam.ac.ir/browse.php?a_code=A-10-168-1&slc_lang=en&sid=1
Afshin
Yarmohammadi
peymanhadi@yahoo.com
10031947532846001891
10031947532846001891
No
Department of Biology, Sanandaj Branch, Islamic Azad University, Sanandaj, Iran
Fatemeh
Keshavarzi
gol.keshavarzi@gmail.com
10031947532846001892
10031947532846001892
Yes
Department of Biology, Sanandaj Branch, Islamic Azad University, Sanandaj, Iran
Mokhtar
Farhadian
gol.keshavarzi@gmail.com
10031947532846001893
10031947532846001893
No
Department of Psychology, Sanandaj Branch, Islamic Azad University, Sanandaj, Iran