retrospective chromosome studies among Iranian infertile women: report of 21 years

The infertility is an important health problem, affecting about 15% of couples. The important role of genetic factors in pathogenesis of infertility is now increasingly recognized. The value of karyotyping women in the routine work-out of couples referred for sterility has long been recommended. The aim of this study was to define the frequency of all chromosomal aberrations among women which referred to our department due to infertility during the 21-year period. In this 21-year retrospective study, for the first time, we investigated 896 women which referred to our department due to infertility during 1986 to 2006. For chromosome analysis, heparinized peripheral blood samples were cultured, harvested and banded according to standard methods. Out of 896 patients, 710 patients [79.24%] had a normal karyotype, and 186 patients [20.76%] showed abnormal karyotype. Among the abnormal ones 48 patients [25.81%] showed Turner's syndrome [45,X], and 45 patients [24.19%] were sex reversal with 46,XY karyotype. The rest of 93 patients [50%] revealed a wide range of chromosome abnormalities. Our results emphasized the importance of the standard cytogenetic methods in assessing the genetic characteristics of infertile females, which allows detecting a variety of somatic chromosome abnormalities, because some of these may interfere with the success of reproduction

Association of smoking habits of mother during pregnancy with pregnancy outcome

The objectives of this work were to study the association of maternal smoking habits with stillbirths, abortions, neonatal deaths, birth weights, placental weights and the outcomes on the 28[th] day of life. A questionnaire was developed and completed with the hospitals' recorded data collected over a period of 5 years from 47,000 babies born in several hospitals in Ontario, Canada. The mothers were classified into four categories: non-smokers, light smokers [less than 10 cigarettes per day], moderate smokers [between 10 and 19 cigarettes per day] and heavy smokers [20 or more cigarettes per day]. The population surveyed was of mixed ethnicity from both rural and urban areas. Statistical analysis was performed using the SPSS statistical package. Even the light smoking habit has an effect on the birth weight and the placental weight but for other characteristics, stillbirth, abortion, and the outcomes on the 28[th] day of life, no significant difference observed between light smokers and non-smokers. While quit smoking must be the ultimate goal for any smoker, the present study concludes that moderate and heavy smokers, if they will not be able to quit, they should reduce their number of cigarettes per day to at least the level of light smokers to achieve the same results for non-smokers. All characteristics show significant difference between non-smokers and moderate and heavy smokers

Mutation screening in the mitochondrial d-loop region of tumoral and non-tumoral breast cancer in Iranian patients

The mitochondrial DNA [mtDNA] mutations in mitochondrial coding and non coding regions seem to be important in carcinogenesis. The aim of this investigation was to evaluate coding region [mttRNA[Phe] and tRNA[Pro]] and non-coding sequence, mitochondrial displacement loop [mtDNA D-loop], in the cancerous and non-cancerous lesions of Iranian patients with breast cancer [BC]. Genomic DNA was extracted from 50 breast tumors and surrounding normal tissue pairs as well as from 50 unrelated normal breast tissues from Iranian Kurdish population. Subsequently, PCR amplification was performed using specific primers, and then PCR products were subjected to direct sequencing. 41 genetic variants were identified in mtDNA D-loop among tumoral and non-tumoral tissues but not in tRNA[Phe] and tRNA[Pro] sequences. Our findings indicated that C182T, 194insT, 285insA and 16342delT were just found in BC tumors whereas 302insC, C309T and C16069T found in both tumors and surrounding normal tissues. Although our findings showed that the observed genetic variations were not restricted to breast cancer tissues, some genetic changes were found only in BC tumors. Our results, in agreement with the evidence from earlier studies, confirm that the mtDNA genetic alterations might be implicated in tumor initiation, progression and development.

[Higher frequencies of chromosomal aberrations in lymphocytes of children with acute lymphoblastic leukemia after in vitro gamma irradiation]

Acute lymphoblastic leukemia [ALL] is the most common malignancy in childhood, characterized by excess lymphoblasts, and immature white blood cells that are continuously multiplying and overproducing in the bone marrow. The aim of this investigation was to measure the sensitivity of lymphocytes against gamma irradiation in patients with acute lymphoblastic leukemia, and also find out the effect of such irradiations in causing chromosomal abnormalities. In this investigation performed between April 2010 and July 2011, at the Department of Genetics, Cancer Institute of Iran, we studied the effects of gamma irradiation on the lymphocytes of 20 children with acute lymphoblastic leukemia. The lymphocytes of 30 healthy donors were used to establish as a normal response to gamma irradiation and seven age-matched ataxia telangiectasia patients were recruited as positive control. The chromosomal radiosensitivity was assessed with the G2- and the G0-assay. We compared the mean number of chromosomal abnormalities such as chromosome and chromatid breakages, chromosome and chromatid gaps, and chromatid exchanges in one-hundred metaphases of patients and control groups. The frequency of chromosomal aberrations was statistically higher among patients with acute lymphoblastic leukemia than the normal controls [P<0.01]. In total, 65% of the patients were sensitive to gamma irradiation, but the remaining 35% were similar to the normal controls. Patients with ataxia telangiectasia showed the highest sensitivity to gamma irradiation [P=0.001]. Our results showed that a high percentage of patients with acute lymphoblastic leukemia were sensitive to irradiation, meaning that maximum care should be taken during their treatment to avoid unnecessary X-rays or radiotherapies.