Bekir Sitki Şayli

Consanguineous marriages in the Turkish population

This study of 55 175 marriages in Turkey, conducted from 1970 to 1987, showed an overall rate of consanguineous marriage of 21.21% (mostly first‐cousin liaisons) and an inbreeding coefficient of 0.0064532. However, considerable differences between areas are apparent.

Assessment of fertility and infertility in boron-exposed turkish subpopulations

As a part of a work to reveal the health effects of boron and its compounds, fertility and infertility states of sibs of probands, contacted and interviewed in the field, and of their spouses were given. The purposes were to prevent duplications seemingly inevitable in a relatively small community with prevailing consanguinity while analyzing marriages over respective generations and to reveal if there occurred an aggregation of infertile couples. Any family without offspring after about the second year of marriage was considered primary infertile as adopted throughout the study and such families were ascertained through the individual pedigree charts set up according to the instructions of the proband, he (she) himself (herself) being excluded. The rates of childless families of this type were 0.0–3.4% among male and 0.9–3.8% among female sibs of the participant, and 2.3–10.0% among male and 0.0–5.6% among female sibs of his (her) spouse with averages of 2.3% of 1589, 2.6% of 1589, 4.0% of 1314, and 3.3% of 1436 instances, respectively. The differences were insignificant and the rates were not different from those concerning probands themselves and that of a comparable segment of the Turkish population.“Borate families/kindreds” with two or more members engaged in the borate industry were also assessed in order to detect if there was a significant clustering of infertiles within the kindred. Although it was difficult to compare with a matched group, few couples were examples of familial concentration of infertility. These results provided further support that boron exposure does not affect human reproduction primarily and most probably secondarily.

Therapeutical and genetical aspects of congenital glaucomas

Therapy for congenital glaucoma is primarily surgical. We have investigated 249 cases who have undergone trabeculectomy. There was a 79% success rate as regards to control of the IOP. Vision could be saved among the patients who had applied relatively early. At the end of the follow up which was 5 years IOP remained normal in the successful group. All the patients and their families were analysed genetically by their pedigrees and caryotypes. An autosomal recessive pattern with variable penetrance was found. The majority of the patients came from families with consanguineous marriages giving a rate of 66.6%. It was suggested that the course of the disease is highly affected by and related to parental consanguinity. An early age of onset and an accelerated clinical course could be well correlated.

AN ASSESSMENT OF FERTILITY IN BORON-EXPOSED TURKISH SUBPOPULATIONS. 2. EVIDENCE THAT BORON HAS NO EFFECT ON HUMAN REPRODUCTION

SummaryIn order to assess the effects of boron and its compounds on human health in a country with the world’s largest deposits, investigations were carried out on fertility and reproduction in the most highly exposed populations. The 927 probands, 697 male and 230 female, interviewed in the field were selected from six different areas of Turkey, in the provinces of Balikesir, Eskisehir, and Kutahya, with the highest boron deposits. These people are exposed to boron environmentally or occupationally or both. The drinking waters of high-boron soils contain 0.7–29 mg B/L compared with 0.05-0.45 mg B/L of low-boron soils.By the so-called pedigree technique 5,934 marriages were ascertained over three generations from all study areas. Childless families among 911 probands were 29 in number and 3.17% in frequency with minor variations from one area to the next, and 3.0% averaged over the generations. Infertility rates in a boron-free community near Ankara with 625 families studied over three generations was 4.48%, and in a larger population of 49,856 families randomly investigated by us throughout the country was 3.84%. No significant differences were observed in terms of marital status and childbearing between 222 and 399 occupationally boron-unrelated and boron-related men, respectively. Nor was there any difference with respect to other aspects studied. It was concluded that, within the limitations of this study, there was no evidence that boron interferes with human fertility and reproduction.

Estimation of human daily boron exposure in a boron-rich area.

Although, the safe limits of human daily boron (B) exposure are not absolutely clear, there is a growing interest in B and its effects on human health. The aim of the present study was to estimate daily B exposure in 66 males in Turkey living in a B-rich area using water containing at least 2 mg/l boron, with an average age of 38.55 (se 1.66) years and an average number of years of residence in the B-rich area of 35.89 (se 1.73). Another group of males (n 57), living in the city centres of Balikesir and Ankara, were taken as controls; the average age and number of years of residence for this group were 29.44 (se 1.43) and 10.26 (se 1.83) years, respectively. As it is assumed that the B level in urine reflects daily B exposure, the amount of urinary B of both the study and control groups was analysed by using an inductively coupled plasma optical emission spectrometry (ICP-OES) technique. The average daily B exposure value was calculated as 6.77 (se 0.47) mg in the study group and 1.26 (se 0.1) mg in the controls. The results of this study are expected to contribute to creating a reference value for a safe daily B exposure.

Consanguineous marriages among parents of Down patients

In order to reveal if there is an effect on the genesis of meiotic‐ or early zygotic non‐disjunctions, data related to 1598 Down syndrome patients from 1578 families studied in five different genetic centers in Turkey are reported. Parental consanguinity and the inbreeding coefficient were found to be lower among patients of 21‐trisomics than in parents without Down offspring. It was concluded that available information does not support the presence of a “non‐disjunction gene” in man.

Effects of consanguinity on anthropometric measurements of newborn infants.

The effects of parental consanguinity on gestational age and birth measurements were evaluated on 2880 newborn infants. Consanguineous marriages were considered in three subgroups: first‐cousin, first‐cousin‐once‐removed and distant‐cousin marriages, versus non‐consanguineous marriages. Anthropometric parameters were weight, length, leg length, head, chest and mid‐arm values obtained within 24 h of birth. No significant differences were found concerning gestational age. Although anthropometric values were slightly less, especially in children from first‐cousin couples, the differences were insignificant for all groups. It was concluded that blood‐relationship alone does not affect such multifactorial traits.

Sister chromatid exchange analysis in acute leukemia patients

This study was made to show the effects of acute leukemia (AL) and cytostatic drug therapy on chromosomes by sister chromatid exchange (SCE) analysis. Metaphase preparations from peripheral blood lymphocytes (PBL) of 15 patients [13 with acute nonlymphocytic leukemia (ANLL) and one with acute lymphocytic leukemia (ALL), and one with Hodgkins disease (HD)] were harvested before and after treatment. Mean SCE frequency in the cells was 12.07 +/- 0.15 before therapy and was 14.04 +/- 0.32 after therapy as compared with 7.87 +/- 0.60 in controls. SCE values of patients with AL were significantly higher than those of controls, and this was more conspicuous in the cells that had undergone anticancer treatment.

Facioscapulohumeral muscular dystrophy concentrated in the village Çullar, Nevşhir, Turkey

SummaryIn this paper genetic, clinical, and epidemiological studies on a muscular dystrophy which originated and is concentrated in the village of Çullar, Nevşehir of inland Turkey, are reported. A pedigree chart has been constructed by careful and repeated inquiries, and both clinical and laboratory examinations have generally been carried out in the field. The consideration, facioscapulohumeral muscular dystrophy of Landouzy-Déjérine, has been found to have affected at least 53 individuals, 9 of whom are deceased. Both sexes in six generations are involved as would be expected from a dominant mendelian gene freshly mutated at least 100 years ago. Additionally, some 19 individuals have been described as having the disease or some of its stigmata, but have not been examined by us. Initial signs and symptoms seem to appear early in infancy, though variable, and because of complete dominance, some 75 individuals are at risk. The disease progresses slowly without interfering significantly with survival and reproduction. For prevention the so-called Çullar example measures have been taken to improve the area culturally and socioeconomically.