Objective: To investigate the indications of amniocentesis for the detection of chromosomal abnor... more Objective: To investigate the indications of amniocentesis for the detection of chromosomal abnormalities among a sample of patients in Southeast Turkey. Material and methods: Between 2004 and 2007, 1,068 second-trimester amniocentesis tests were performed in the Medical Biology and Genetics Department Laboratory at Dicle University. Amniotic fluids were cultured by using long-term tissue culture for prenatal diagnosis with cytogenetic analysis. The clinical and cytogenetic findings on 1,068 second-trimester amniocenteses were analyzed. The indications, the proportions of karyotypes according to indications and complications were summarized. Results: Among the 1,068 amniocentesis cases, the maternal age between 35 and 39 years was the most common age group (34.5%). Of the clinical indications abnormal maternal serum screening results were the most common indication for amniocentesis (37.6%). Of 52 cases (4.9%) with detected chromosomal aberrations, 39 were numeric (27 trisomies, 10 sex chromosome aberrations and two triploidies) and 13 were structural (2 reciprocal translocations, 2 Robertsonian translocations and 6 inversions). The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis for abnormal maternal serum screening combined with abnormal ultrasound (US) findings (8.0%). Conclusion: This study suggests that complementary measures, such as routine antenatal US and maternal serum screening, should be added to increase the efficiency of genetic amniocentesis. Therefore, the study could be used for the establishment of a database for genetic counseling.
Genetic Testing and Molecular Biomarkers, Jun 1, 2014
To investigate the association of the genetic variants of FAS/FASLG cell death pathway genes in m... more To investigate the association of the genetic variants of FAS/FASLG cell death pathway genes in male infertility, we genotyped the FAS -670A/G, -1377G/A, and FASLG -124A/G single-nucleotide polymorphisms (SNPs) by real-time polymerase chain reaction in 108 infertile men with idiopathic azoospermia and in 125 proven fertile controls. The distribution of genotypes and alleles for SNPs at FAS -1377G/A and FASLG -124A/G loci were determined not to be statistically different between the case and control groups. However, the genotype frequencies of SNPs, FAS -670AA and FAS -670AG, were found to be significantly different between the case and control groups. Whereas the FAS -670AA genotype might be regarded as a higher predisposition for idiopathic azoospermia, FAS -670AG could be interpreted to mean that this genotype provides protection against idiopathic azoospermia. The study of combined genotype and haplotype frequencies has found statistically significant differences between case and control subjects for some combinations. The AA-GG binary genotype for the FAS670 and FAS1377 loci couple, in particular, may have a high degree of predisposition to idiopathic azoospermia. Our results suggest that FAS -670A/G SNP may be a genetic predisposing factor of idiopathic azoospermia among southeastern Anatolian men. Larger studies are needed to verify these findings. Furthermore, our data indicated a possible linkage between the FAS and FASLG genes and idiopathic azoospermia.
Vitiligo is an acquired hypomelanotic skin disorder resulting from the loss of functional melanoc... more Vitiligo is an acquired hypomelanotic skin disorder resulting from the loss of functional melanocytes from the cutaneous epidermis. Low catalase (CAT) activity and Accumulation of hydrogen peroxide (H2O2) have been demonstrated in the epidermis of vitiligo patients. Some polymorphisms on catalase gene may have effect on the quantity and activity of catalase enzyme. The aim of this study was to investigate whether catalase (CAT) gene polymorphisms are associated with susceptibility to vitiligo in Turkish population. One hundred and three patients with vitiligo and one hundred and seven gender, age and ethnic matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The CAT gene -89A>T (rs7943316) and 389C>T (rs769217) genotypes and allele frequencies of vitiligo patients did not differ significantly from those of healthy controls. We found no association between CAT gene -89A>T and 389C&...
Short stature and growth retardation in girls commonly occur in patients with Turner syndrome. We... more Short stature and growth retardation in girls commonly occur in patients with Turner syndrome. We present a 19-year-old-girl with primary amenorrhea and growth retardation, who has a mosaic karyotype, 46X,i(Xq)[17]/45,X[8]. Classic Turner syndrome has a more severe phenotype than variant causes of Turner syndrome. We present a patient with 46,X,i(Xq) karyotype and compare the clinical and laboratory findings with the classic description of Turner syndrome. Our patient has normal social and psychomotor skills unlike previously reported cases in the literature. This case expands the phenotype–genotype description of Turner syndrome, which makes it an important contribution to the literature.
Objective: To investigate the indications of amniocentesis for the detection of chromosomal abnor... more Objective: To investigate the indications of amniocentesis for the detection of chromosomal abnormalities among a sample of patients in Southeast Turkey. Material and methods: Between 2004 and 2007, 1,068 second-trimester amniocentesis tests were performed in the Medical Biology and Genetics Department Laboratory at Dicle University. Amniotic fluids were cultured by using long-term tissue culture for prenatal diagnosis with cytogenetic analysis. The clinical and cytogenetic findings on 1,068 second-trimester amniocenteses were analyzed. The indications, the proportions of karyotypes according to indications and complications were summarized. Results: Among the 1,068 amniocentesis cases, the maternal age between 35 and 39 years was the most common age group (34.5%). Of the clinical indications abnormal maternal serum screening results were the most common indication for amniocentesis (37.6%). Of 52 cases (4.9%) with detected chromosomal aberrations, 39 were numeric (27 trisomies, 10 sex chromosome aberrations and two triploidies) and 13 were structural (2 reciprocal translocations, 2 Robertsonian translocations and 6 inversions). The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis for abnormal maternal serum screening combined with abnormal ultrasound (US) findings (8.0%). Conclusion: This study suggests that complementary measures, such as routine antenatal US and maternal serum screening, should be added to increase the efficiency of genetic amniocentesis. Therefore, the study could be used for the establishment of a database for genetic counseling.
Genetic Testing and Molecular Biomarkers, Jun 1, 2014
To investigate the association of the genetic variants of FAS/FASLG cell death pathway genes in m... more To investigate the association of the genetic variants of FAS/FASLG cell death pathway genes in male infertility, we genotyped the FAS -670A/G, -1377G/A, and FASLG -124A/G single-nucleotide polymorphisms (SNPs) by real-time polymerase chain reaction in 108 infertile men with idiopathic azoospermia and in 125 proven fertile controls. The distribution of genotypes and alleles for SNPs at FAS -1377G/A and FASLG -124A/G loci were determined not to be statistically different between the case and control groups. However, the genotype frequencies of SNPs, FAS -670AA and FAS -670AG, were found to be significantly different between the case and control groups. Whereas the FAS -670AA genotype might be regarded as a higher predisposition for idiopathic azoospermia, FAS -670AG could be interpreted to mean that this genotype provides protection against idiopathic azoospermia. The study of combined genotype and haplotype frequencies has found statistically significant differences between case and control subjects for some combinations. The AA-GG binary genotype for the FAS670 and FAS1377 loci couple, in particular, may have a high degree of predisposition to idiopathic azoospermia. Our results suggest that FAS -670A/G SNP may be a genetic predisposing factor of idiopathic azoospermia among southeastern Anatolian men. Larger studies are needed to verify these findings. Furthermore, our data indicated a possible linkage between the FAS and FASLG genes and idiopathic azoospermia.
Vitiligo is an acquired hypomelanotic skin disorder resulting from the loss of functional melanoc... more Vitiligo is an acquired hypomelanotic skin disorder resulting from the loss of functional melanocytes from the cutaneous epidermis. Low catalase (CAT) activity and Accumulation of hydrogen peroxide (H2O2) have been demonstrated in the epidermis of vitiligo patients. Some polymorphisms on catalase gene may have effect on the quantity and activity of catalase enzyme. The aim of this study was to investigate whether catalase (CAT) gene polymorphisms are associated with susceptibility to vitiligo in Turkish population. One hundred and three patients with vitiligo and one hundred and seven gender, age and ethnic matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The CAT gene -89A>T (rs7943316) and 389C>T (rs769217) genotypes and allele frequencies of vitiligo patients did not differ significantly from those of healthy controls. We found no association between CAT gene -89A>T and 389C&...
Short stature and growth retardation in girls commonly occur in patients with Turner syndrome. We... more Short stature and growth retardation in girls commonly occur in patients with Turner syndrome. We present a 19-year-old-girl with primary amenorrhea and growth retardation, who has a mosaic karyotype, 46X,i(Xq)[17]/45,X[8]. Classic Turner syndrome has a more severe phenotype than variant causes of Turner syndrome. We present a patient with 46,X,i(Xq) karyotype and compare the clinical and laboratory findings with the classic description of Turner syndrome. Our patient has normal social and psychomotor skills unlike previously reported cases in the literature. This case expands the phenotype–genotype description of Turner syndrome, which makes it an important contribution to the literature.
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Papers by Mahmut Balkan