Autosomal recessive and sporadic non syndromic hearing loss and the incidence of Cx26 mutations in a Province of Iran

Despite the enormous heterogeneity of genetic hearing loss, mutations in the GJB2 [connexin 26] gene located on 'DFNB1' locus [13q12] account for up to 50% of cases of autosomal recessive non-syndromic hearing loss [ARNSHL] in some populations. This study describes the analysis of 100 autosomal recessive and sporadic nonsyndromic hearing loss individuals from 79 families each having at least one deaf child in Chehar Mahal va Bakhtiari province in west of Iran. We have investigated the prevalence of the connexin 26 gene mutations using nested PCR strategy to screen the predominant 35delG mutation and subsequent direct sequencing to detect other Cx26 mutations. Seven different genetic variants were detected from which one novel variant was including 363delC. The 35delG was the most common mutation found in 5 of 79 families [6.3%]. Cx26 related deafness mutations [35delG, [V27I; E114G]] and R127H] were found in 12 of 158 chromosomes studied [7.8%]. We conclude that the association of Cx26 mutations with deafness in Chehar Mahal va Bakhtiari province is low and looks like most other populations of Iran

Dermatoglyphics in patients with oligo/ azospermia

The study of patterns of fingerprints is important in anthropology and medical genetics, chiefly because of their diagnostic usefulness. In the present work, we studied the frequencies of various types of skin ridges of the first phalanx in patients with sever oligospermia or azospermia. In a double-blind case-control study, we determined the frequencies of fingerprints in 880 first phalanxes belonging to 48 men with sever oligospermia and 40 men with azospermia. We determined the types of fingerprints based on Galton classification. Also their FRC, TFRC and AFRC were calculated. Then the results were compared with each other and general population as control group. The most frequent type of fingerprint in both case groups was "Loop". Frequencies of different types among two groups of cases were statistically different [P<0.005]. Also they were statistically different with general population [P<0.005]. The largest mean of FRC in men with oligospermia was belonging to the left ring fingers [23.1] and the second to the right thumbs [21.91]. The largest mean of FRC in men with azospermia was belonging to the right thumbs [23.6] and the second to the right ring fingers [22.6]. The mean of TFRCs in men with oligosoermia and azospermia were 106.8 and 114.39, respectively, and the mean of AFRCs in those two groups were 14 and 11, respectively; their differences were not statistically significant. It can be concluded that qualitative feathers of the fingerprints of men with oligospermia and azospermia were different with each other and with general population. And quantitative feathers of the fingerprints in those two case groups were statistically different as well

Frequency of a very rare 35delG mutation in two ethnic groups of iranian population

The 35delG mutation in the Connexin 26 gene [Cx26], at the DNFB1 locus is the most common mutation in the patients with autosomal recessive non-syndromic hearing loss [ARNSHL]. We have studied a total of 224 deaf cases from 189 families in two populations of Iran [Sistan va Bluchestan and Hormozgan provinces] by prescreening nested PCR, polyacrylamide gel electrophoresis and consequent direct sequencing method for all cases. The aim of the present work was to find prevalence of GJB2 mutations in the populations studied. Four different GJB2 mutations including 35delG, W24X, R127H and [V27I + E114 G] were identified in 11 of 189 families [5.8%]. Two polymorphisms [V27I and V153I] also were detected in 14 families. A polymorphism S86T was determined in all cases. Homozygote 35delG mutation was found only in 1 of 189 families [0.5%].The rate of Cx26 mutations found in this study was lower than other Iranian populations. So the cause of deafness in the populations studied remains to be detected in other loci or genes

Presentation of a pedigree of an Iranian family with two members with Cutis laxa autosomal recessive type I.

Congenital cutis laxa is an exceptional conditionn. No large scale pedigree has been reported from Iran. We report a family with 106 members with two members affected with cutis laxa. Our cases were two patients [male and female] with pre- and postnatal growth retardation, cutis laxa, characteristic facies and otherr manifestations which proved that they were affected with cutis laxa. Their family history was studied and a large pedigree was drawn up. Baseddd on the findings in their pedigree pattern, in addition to clinical pathological studies, one can say that cutis laxa in this family is autosomal recessive. We also showed obligate carrier members in the family. Recent studies have shown that cutis laxa is a heterogeneous group of conditions both clinically and genetically. Autosomal dominant, autosomal recessive, X-linked and also acquired forms have been reported. Our study indicates that our case is an autosomal recessive type I. We disussed the pedigree that covers five generations

Aging coefficient in different religious groups in Iran

Aging Coefficient [AC], or aged'child ratio, is the number of individuals aged 65 years and over, divided by the number of individuals aged 0-14, multiplied by 100. In this point'descriptive study, the aging coefficient has been calculated for the followers of four different religions, for the past four respective decades, according to sex and locality. Overall age composition in different religious groups, in a decreasing order is: Christians, Jews, and Zoroastrians showed a slight decrease in the 80's and a higher increase afterward. Moslems show a more consistent mode, but with a slight increase in the last decade; but in all cases AC has been lower than 15, presenting a higher proportion of a young population or lower aged group. The increase of AC in each group can be caused by the old age survival, i.e. increasing life expectancy, or decreasing birth rate

Study of genotoxicity of environmental chemical pollution on two species of genus apodemus [Rodentia mammalia]

In present work, genotoxicological effects of chemical pollution of an industrial region, on species of genus Apodemus [Rodentia, Mammalia], were studied. The two species were A.flavicolis and A.agrarius. In this study, chromosomal aberrations of bone marrow cells were analysed and were compared according to sex and different species in polluted and unpolluted [control] areas. Results showed that frequencies of chromosomal aberrations, including breaks, between two groups were statistically significant [P<0.005]; and also sensitivity of two sexes and two species against chemical pollutant, were not significant