• Clinical and Experimental Reproductive Medicine
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• 제50권4호
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• pp.253-261
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• 2023

Objective: Azoospermia (the total absence of sperm in the ejaculate) affects approximately 10% of infertile males. Despite diagnostic advances, azoospermia remains the most challenging issue associated with infertility treatment. Our study evaluated transition nuclear protein 2 (TNP2) and synaptonemal complex protein 3 (SYCP3) polymorphisms, azoospermia factor a (AZFa) microdeletion, and gene expression levels in 100 patients with azoospermia. Methods: We investigated a TNP2 single-nucleotide polymorphism through polymerase chain reaction (PCR) restriction fragment length polymorphism analysis using a particular endonuclease. An allele-specific PCR assay for SYCP3 was performed utilizing two forward primers and a common reverse primer in two PCR reactions. Based on the European Academy of Andrology guidelines, AZFa microdeletions were evaluated by multiplex PCR. TNP2, SYCP3, and the AZFa region main gene (DEAD-box helicase 3 and Y-linked [DDX3Y]) expression levels were assessed via quantitative PCR, and receiver operating characteristic curve analysis was used to determine the diagnostic capability of these genes. Results: The TNP2 genotyping and allelic frequency in infertile males did not differ significantly from fertile volunteers. In participants with azoospermia, the allelic frequency of the SYCP3 mutant allele (C allele) was significantly altered. Deletion of sY84 and sY86 was discovered in patients with azoospermia and oligozoospermia. Moreover, SYCP3 and DDX3Y showed decreased expression levels in the azoospermia group, and they exhibited potential as biomarkers for diagnosing azoospermia (area under the curve, 0.722 and 0.720, respectively). Conclusion: These results suggest that reduced SYCP3 and DDX3Y mRNA expression profiles in testicular tissue are associated with a higher likelihood of retrieving spermatozoa in individuals with azoospermia. The homozygous genotype TT of the SYCP3 polymorphism was significantly associated with azoospermia.

• 한국수정란이식학회지
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• 제20권3호
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• pp.217-232
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• 2005

The objective of this study was to determine the response of QTL in each generation during selection to develop inbred lines. The simulation program was written in Fortran. Magnitude of QTL effects, base population size, number of QTL assigned to population, and the allelic frequency for the positive allele at each major QTL were highly associated with number of generations to fixation of QTLs during selection. Populations with larger QTL effects and larger base population size had more individuals with fixed QTL. However, a smaller number of QTL assigned to population had a higher fraction of individuals with fixed QTL at each generation compared with more populations with QTL. This simulation study will help to design biological experiments for detection of QTL-marker association using inbred population and to determine optimum number of lines with fixed QTL during inbred line development. To complement this study, additional simulation should be need with abundant replicates, more various population sizes, magnitude of QTL effects, and recombination between markers and QTLs.

• 대한임상검사과학회지
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• 제37권3호
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• pp.139-142
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• 2005

Most expressed HLA(human leukocyte antigen) loci exhibit a remarkable degree of allelic polymorphism, which is derived from sequenceing differences predominantly localized to discrete hypervariable regions of the amino-terminal domain of the molecule. In this study, the HLA-DRB1 genotypes were determined in twenty students using the PCR-SSP (polymerase chain reaction-sequence specific primer) technique. Two specific primer pairs in assigning the DRB1 gene were used. The results of PCR-SSP, the $HLA-DRB1^{\ast}0101$ primer detected nine and $HLA-DRB1^{\ast}1501$ primer detected three people. This study shows that the PCR-SSP technique is relatively simple, fast and a practical tool for the determination of the HLA-DRB1 genotypes. Moreover, these genotype frequency results of the HLA DRB1 gene could be useful for database study before being applied to individual identification and transplantation immunity.

• BMB Reports
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• 제49권2호
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• pp.71-72
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• 2016

Focal cortical dysplasia type II (FCDII) is a focal malformation of the developing cerebral cortex and the major cause of intractable epilepsy. However, since the molecular genetic etiology of FCD has remained enigmatic, the effective therapeutic target for this condition has remained poorly understood. Our recent study on FCD utilizing various deep sequencing platforms identified somatic mutations in MTOR (existing as low as 1% allelic frequency) only in the affected brain tissues. We observed that these mutations induced hyperactivation of the mTOR kinase. In addition, focal cortical expression of mutant MTOR using in utero electroporation in mice, recapitulated the neuropathological features of FCDII, such as migration defect, cytomegalic neuron and spontaneous seizures. Furthermore, seizures and dysmorphic neurons were rescued by the administration of mTOR inhibitor, rapamycin. This study provides the first evidence that brain somatic activating mutations in MTOR cause FCD, and suggests the potential drug target for intractable epilepsy in FCD patients.

• International Journal of Industrial Entomology and Biomaterials
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• 제2권1호
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• pp.79-81
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• 2001

A study was conducted to establish the degree of genetic divergence between different hybrid forms and rearing conditions through estimation of the minimum number of genes (allelic pairs) differentiating parents in terms of specific quantitative traits. It was established that the minimum gene numbers differentiating parental lines in the inheritance of cocoon was 1, of cocoon shell weight- between 1 and 2, and of silk filament length- between 2 and 3. The variability in the specific genetic parameter could be explained by the reliability of the statistical-and-genetic method used and the expression of genes affecting the formation of each of the characters tested. Gene expression, in its turns is conditioned both by the gene interaction within the genotypes and the different genotype response to environmental change. To go deep in the problem, experiments should be conducted under strictly controlled conditions, reducing the mathematical-and-genetic analysis to a physiological levels and hence to analyse the genetic nature of the specific quantitative character formation and its genetic control.

• Asian-Australasian Journal of Animal Sciences
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• 제19권8호
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• pp.1071-1078
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• 2006

Three buffalo populations viz. Bhadawari, Tarai and local buffaloes of Kerala were genotyped using 24 heterologous polymorphic microsatellite loci. A total of 140 alleles were observed with an average observed heterozygosity of 0.63. All the loci were neutral and 18 out of the 24 loci were in Hardy Weinberg Equilibrium. The $F_{IS}$ values (estimate of inbreeding) for 16 loci in all the three populations were negative. This indicated lack of population structure in the three populations. The effective number of immigrants was 5.88 per generation between the Tarai and Bhadawari populations which was quite high suggesting substantial gene flow. The genetic distances revealed closeness between the Tarai and Bhadawari populations which was expected from geographical contiguity. The FST values were not significantly different from zero showing no population differentiation. The Correspondence Analysis based on the allelic frequency data clustered the majority of the Tarai and Bhadawari individuals as an admixture.

• International Journal of Industrial Entomology and Biomaterials
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• 제13권2호
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• pp.113-117
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• 2006

Heterosis was studied involving two multivoltine silkworm breeds viz, APM1 and SLKSPM through rearing and isozyme analysis. A positive significant heterotic effect was observed in fecundity, hatching % and survivability. The heterobeltiosis was observed only in fecundity and hatching %. Isozyme analysis of ${\alpha}-esterase$ showed variation in loci and allelic expression. The allele with heterozygosity $(Est-2^{12})$ was observed at the Est-2 locus in $F_1$ progeny. Est-3 was observed in $F_1$ progeny, whereas it was completely absent in both parental lines. The present study suggests that the markers ($Est-2^{12}$ and Est-3) targeted for introgression may be useful for the improvement of fecundity and survivability as the phenomenon of heterosis was observed only in $F_1$ progeny.

• 한국식물학회:학술대회논문집
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• 한국식물학회 1987년도 식물생명공학 심포지움 논문집 Proceedings of Symposia on Plant Biotechnology
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• pp.323-347
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• 1987

The R locus of maize in one of several genes that regulate the anthocyanin pigments throughout the body of the plant and seed. The R gene product may regulate pigment deposition by controlling the expression of the flavonoid biosynthetic gene pathway in a tissue-specific manner. To understand the basis for tissue specific regulation and allelic variation at R, the molecular study has been done by cloning a portion of the R complex by transposon tagging with Ac. R specific probe were cloned from the R-nj mutant induced by Ac insertion mutagenesis. From southern analysis of R-r complex using the R-nj probe, the structure of R-r was proposed that R-r containes the three elements, (P)(Q)(S). These elements may organize as the inversion triplication model which (S) sequence was inverted in relation to (P) and (Q). The R-sc derivated from R-mb or R-nj was cloned with R-nj probe, and molecular genetical data showed that R-sc containes tissue specific and tissue nonspecific area, and the sequencing of R-sc are progressed now.

• Asian Pacific Journal of Cancer Prevention
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• 제16권18호
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• pp.8227-8233
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• 2016

Background: To investigate polymorphisms in heat shock proteins A1B and A1L (HOM) and associated risk of oesophageal carcinoma in Northeast India. Materials and Methods: The study includes oesophageal cancer (ECA) patients attending general outpatient department (OPD) and endoscopic unit of Gauhati Medical College. Patients were diagnosed based on endoscopic and histopathological findings. Genomic DNA was typed for HSPA1B1267 and HSPA1L2437 SNPs using the polymerase chain reaction with restriction fragment length polymorphisms. Results: A total of 78 cases and 100 age-sex matched healthy controls were included in the study with a male: female ratio of 5:3 and a mean age of $61.4{\pm}8.5years$. Clinico-pathological evaluation showed 84% had squamous cell carcinoma and 16% were adenocarcinoma. Dysphagia grades 4 (43.5%) and 5 (37.1%) were observed by endoscopic and hispathological evaluation. The frequency of genomic variation of A1B from wild type A/A to heterozygous A/G and mutant G/G showed a positive association [chi sq=19.9, p=<0.05] and the allelic frequency also showed a significant correlation [chi sq=10.3, with cases vs. controls, OR=0.32, $p{\leq}0.05$]. The genomic variation of A1L from wild T/T to heterozygous T/C and mutant C/C were found positively associated [chi sq=7.02, p<0.05] with development of ECA. While analyzing the allelic frequency, there was no significant association [chi sq=3.19, OR=0.49, p=0.07]. Among all the risk factors, betel quid [OR=9.79, Chi square=35.0, p<0.05], tobacco [OR=2.95, chi square=10.6, p<0.05], smoking [OR=3.23, chi square=10.1, p<0.05] demonstrated significant differences between consumers vs. non consumers regarding EC development. Alcohol did not show any significant association [OR=1.34, chi square=0.69, p=0.4] independently. Conclusions: It can be concluded that the present study provides marked evidence that polymorphisms of HSP70 A1B and HSP70 A1L genes are associated with the development of ECA in a population in Northeast India, A1B having a stronger influence. Betel quid consumption was found to be a highly significant risk factor, followed by smoking and tobacco chewing. Although alcohol was not a potent risk factor independently, alcohol consumption along with tobacco, smoking and betel nut was found to contribute to development of ECA.

• Genomics & Informatics
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• 제6권1호
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• pp.14-17
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• 2008

GENDISCAN study (Gene Discovery for Complex traits in Asian population of Northeast area) was designed to incorporate methodologies which enhance the power to identify genetic variations underlying complex disorders. Use of population isolates as the target population is a unique feather of this study. However, population isolates may have hidden inbreeding structures which can affect the validity of the study. To understand how this issue may affect results of GENDISCAN, we estimated inbreeding coefficients in two study populations in Mongolia. We analyzed the status of Hardy-Weinberg Equilibrium (HWE), polymorphism information contents (PIC), heterozygosity, allelic diversity, and inbreeding coefficients, using 317 and 1,044 STR (short tandem repeat) markers in Orkhontuul and Dashbalbar populations. HWE assumptions were generally met in most markers (88.6% and 94.2% respectively), and single marker PIC ranged between 0.2 and 0.9. Inbreeding coefficients were estimated to be 0.0023 and 0.0021, which are small enough to assure that conventional genetic analysis would work without any specific modification. We concluded that the population isolates used in GENDISCAN study would not present significant inflation of type I errors from inbreeding effects in its gene discovery analysis.