Balkan Journal of Medical Genetics

CYTOGENETIC FINDINGS IN MENTALLY RETARDED IRANIAN PATIENTS
Nasiri F1, Mahjoubi F1,2,*, Manouchehry F1, Razazian F1, Mortezapour F1, Rahnama M1
*Corresponding Author: Dr. Frouzandeh Mahjoubi, Genetics Department, Iran Blood Transfusion Organization Research Centre, High Institute for Research and Education in Transfusion Medicine, Hemmat Express Way, Next to the Milad Tower, Tehran, Iran; Tel.: +9821-44580389; Fax: +9821-44580399; E-mail: Frouz@ nigeb.ac.ir
page: 29

MATERIALS AND METHODS

Blood samples were collected from 865 idiopathic MR patients who were refereed to IBTO for cytogenetic study. There were 287 females and 578 males. The median age of the patients was 9.5 years. The patients enrolled in this study had unexplained MR. In addition, some of them showed stigmata of dysmorphology, malformations, growth retardation, family history of MR, developmental delay, miscarriages, infertility/subinfertility suggestive of a familial chromosomal translocation/inversion. Chromosomal analysis was performed on phytohemagglutinin (PHA)-stimulated peripheral lymphocyte cultures of the patients using standard cytogenetic methods [13,14]. A cytogenetic test for fragile X was performed upon request. Briefly, peripheral blood lymphocytes were cultured in 5 mL RPMI 1640 (Gibco®; Invitrogen, Paisley, Scotland, UK), supplemented with 20% (v/v) fetal bovine serum (GIBCO®; Invitrogen) and 10 μL/mL phytohemagglutinin (PHA) (GIBCO®; Invitrogen) at 37°C. After 72 hours of incubation, 40 μL colcemid (10 μg/mL) (GIBCO®; Invitrogen) was added to the cells. The cells were incubated at 37°C for about 10 mins. The suspension was centrifuged, and the pellet was resuspended in 5-10 mL KCL (0.075 M) for about 20 mins. at 37°C. After centrifugation, the cells resuspended in fixative (3v methanol:1v acetic acid) (Merk, Frankfurt, Germany). The fixative was changed at least three times. Using a Pasteur pipette, a drop was dropped onto the slide. The chromosomes were viewed under phase contrast to assess quality of the metaphases and nuclei. The chromosomes were treated with trypsin, then stained with Giemsa (GTG-banded) after aging. Twenty to 30 metaphases were analyzed per individual and in cases of suspected mosaicism, the numbers of metaphases were increased to a total of 100 for analysis. A resolution of 450-band stage was considered as a minimum; for a more detailed structural analysis, 550-700-band stage was preferred. The routine analysis was based on GTG-banded staining. For patients with structural chromosome abnormalities or marker chromosomes, a chromosome study of the parents was recommended and performed if the parents were alive and available (some of the patients lived in orphanages) or cooperated.

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