• Asian-Australasian Journal of Animal Sciences
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• v.17 no.6
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• pp.737-742
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• 2004

Garole, a prolific small sized sheep breed of West Bengal, was introduced in the Mutton project of the Institute in 1997 to explore the possibility of incorporating fecundity gene(s) into monotocus Malpura sheep of Rajasthan. Results of reproduction and production traits in respect of Garole${\times}$Malpura (G${\times}$M) half-breds have been obtained. Of 35 lambing obtained so far from the ewes of Garole${\times}$Malpura, 45.71% were twin lambing, whereas, Malpura sheep produced mostly single lamb except 2.55% twin lambing on an average. Other reproduction traits in G${\times}$M ewes such as lambing rate, litter size at birth and weaning were considerably improved over Malpura ewes. Results revealed that the fecundity genes responsible for increasing ovulation rate and litter size have been incorporated in to the G${\times}$M genotype and it might prove a valuable germ plasm towards evolving a new prolific strain of sheep. Interestingly, survivability of G${\times}$M half-breds was almost at par with the local Malpura sheep in harsh climatic conditions of semi-arid tropics. The body weights at different ages of G${\times}$M half-breds were on little lower side compared to contemporary Malpura lambs. Average kilogram of lambs weaned/ewe lambed in Malpura and G${\times}$M genetic group was 11.86 and 11.07 kg respectively. In view of minimizing the differences in body weights and kg of lambs weaned/ewe lambed between the two genetic groups, G${\times}$M ewes has to be backcrossed with Malpura rams to raise the inheritance of latter up to 75% level. However, further research is needed to reach on certain conclusions regarding net returns from such crosses.

• Korean Journal of Clinical Laboratory Science
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• v.54 no.4
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• pp.316-324
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• 2022

Polycystic ovary syndrome (PCOS) is a complex endocrinopathy in women of reproductive age. The genetics of PCOS is heterogeneous with the involvement of number of genes in the steroid synthesis pathway. The CYP11B2 encodes aldosterone synthase and the genetic variants might increase aldosterone secretion in PCOS cases. CYP1A1 is known to enhance the intraovarian catechol estrogen production and thus the propensity for PCOS. The present case-control study analyzed a total of 619 females for CYP11B2 (rs1799998) and CYP1A1 (rs4646903) polymorphisms. Obesity was examined according to body mass index (BMI) and waist hip ratio (WHR) categorization. Biochemical (lipid profile) analysis was performed in PCOS females. BMI (P=0.0001) and WHR (P=0.0001) revealed a statistically significant difference between PCOS cases and controls. The overall levels of triglycerides were higher in PCOS females. The genotype frequency distribution of CYP11B2 (rs1799998) polymorphism revealed statistically significant difference between PCOS cases and controls (P=0.017). However, CYP1A1 (rs4646903) polymorphism did not showed any association with PCOS. The present case-control association analysis is first from our region for CYP1A1 and CYP11B2 polymorphisms and is suggestive of genetic predisposition of steroidogenic genes among PCOS patients in the North-Indian Punjabi females.

• Journal of The Korean Association For Science Education
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• v.14 no.2
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• pp.170-183
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• 1994

In this study, in order to find our high school students' misconceptions on genetics and evolution, a free-answer form of questionnaire, specially designed through analysis of high school biology curriculum, was developed and sent to one hundred and eight high school students in Seoul area. Their responses were collected and qualitatively analyzed. Main results of the study can be summarized as follows: 1. Some students misunderstood that aquired chracters are inherited. 2. Several students weren't instructed clearly about gene. For example, they responsed that genes are not material, composed of proteins, exist only in reproductive cells and are not in plant cells at all. 3. Some students confused chromosome with chlorophyll, dorminant (in dorminant character) with excellent. They are caused by similar spells in Korean letter 4. Half students misconceptualized that organisms evolve just when their environment changes for the worse. 5. Many students believed orthogenesis.

• 대한생식의학회:학술대회논문집
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• 2006.11a
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• pp.149-149
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• 2006

• Journal of Genetic Medicine
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• v.20 no.1
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• pp.15-24
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• 2023

Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.

• Microbiology and Biotechnology Letters
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• v.43 no.1
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• pp.1-8
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• 2015

In this study, a DNA-launched reverse genetics system was developed from a type 2 porcine reproductive and respiratory syndrome virus (PRRSV) strain, KNU-12. The complete genome of 15,412 nucleotides was assembled as a single cDNA clone and placed under the eukaryotic CMV promoter. Upon transfection of BHK-tailless pCD163 cells with a full-length cDNA clone, viable and infectious type 2 progeny PRRSV were rescued. The reconstituted virus was found to maintain growth properties similar to those of the parental virus in porcine alveolar macrophage (PAM) cells. With the availability of this type 2 PRRSV infectious clone, we first explored the biological relevance of ORF5a in the PRRSV replication cycle. Therefore, we used a PRRSV reverse genetics system to generate an ORF5a knockout mutant clone by changing the ORF5a translation start codon and introducing a stop codon at the 7^th codon of ORF5a. The ORF5a knockout mutant was found to exhibit a lack of infectivity in both BHK-tailless pCD163 and PAM-pCD163 cells, suggesting that inactivation of ORF5a expression is lethal for infectious virus production. In order to restore the ORF5a gene-deleted PRRSV, complementing cell lines were established to stably express the ORF5a protein of PRRSV. ORF5a-expressing cells were capable of supporting the production of the replicationdefective virus, indicating complementation of the impaired ORF5a gene function of PRRSV in trans.

• Korean Journal of Plant Tissue Culture
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• v.27 no.5
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• pp.359-366
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• 2000

Epigenetics represents a chromatin-mediated transcriptional repression which plays a control role in both animal and plant development. A number of different mechanisms have been described to be involved in the formation of chromatin structure: especially DNA methylation, nucleosomal histone modification, DNA replication timing, and binding of chromatin remodelling proteins. Epigenetic phenomena include genomic imprinting, dosage compensation of X-chromosome linked genes, mutual allelic interactions, paramutation, transvection, silencing of invasive DNA sequences, etc. They are often unstable and inherited in a non-Mendelian way. A number of epigenetic defects has been preferentially described in floral development. Here, epigenetic phenomena in model angiosperm plants and their corresponding mechanisms are reviewed.

• Clinical and Experimental Reproductive Medicine
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• v.28 no.1
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• pp.73-77
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• 2001

Objective: To report the pregnancy which was made by in vitro fertilization using recombinant follicle stimulating hormone and gonadotropin releasing hormone antagonist. Material and Method: Case report. Results: Six oocytes were retrieved and all were fertilized by intracytoplasmic sperm injection. Six embryos were transferred and the pregnancy was confirmed. Conclusion: It is envisaged that the availability of recombinant gonadotropins and gonadotropin releasing hormone antagonists will ultimately lead to shorter, cheaper and safer treatments, using reduced dosages.

• Clinical and Experimental Reproductive Medicine
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• v.40 no.4
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• pp.174-176
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• 2013

Klinefelter syndrome is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty. It is characterized by infertility, small testes, sparse body and facial hair, increased body weight, gynecomastia, increased LH and FSH, and a low level of testosterone. Early recognition and treatment of Klinefelter syndrome can significantly improve the patient's quality of life and prevent serious consequences. Here, we report an infertile man with a rare variant of Klinefelter syndrome with a 47, XY, i(X)(q10) karyotype.

• Journal of Genetic Medicine
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• v.3 no.1
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• pp.25-27
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• 1999

Purpose: To present our experiences in pseudomosaicism or maternal cell contamination in genetic mid-trimester amniocentesis confirmed through percutaneous umbilical blood sampling. Methods: From 1992 to 1997, repeated cytogenetic evaluation with fetal cord blood was carried out in 14 cases showing mosaic patterns. Results: We confirmed pseudomosaicism in 12 cases (85.7%) by repeated cytogenetic evaluation, and also maternal cell contamination in 2 cases. Conclusion: Repeated cytogenetic evaluation via percutaneous umbilical blood sampling was a rapid and useful method for the confirmation of mosaicism resulted from genetic mid-trimester amniocentesis.