• Journal of the Korea Academia-Industrial cooperation Society
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• v.5 no.2
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• pp.141-149
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• 2004

The aim of this study was to test the validity of the hypothesis that the karyotypes of four species of Lepilemuridae were formed spontaneously from their ancestral hybrid karyotype. Hypothetical ancestral haploid Karyotype of Lepilemuridae is composed of 18 autosomes and X chromosomes. Lepilemur mustelinus karyotype has four tandem fused chromosomes and one Robertsonian translocated chromosome pairs. Lepilemur septentrionalis septentrionalis karyotype has only two pairs of translocated chromosomes. We reconstruct and suggest ancestral karyotype of LMU(ancLMU) and LSS(ancLSS), from which all four studied species were derived. Hybrids of ancLMU and ancLSS were formed and produce differently fused equilibrated gametes via circular form arrangement during gametogenesis. Five unit of trivalent homologous chromosome pairs were engaged in a circular form to give new gamete corresponding to the karyotype of L. dorsalis, orientation of one unit of trivalent was inversed in the circle to gave new gamete corresponding to the karyotype of L. leucopus. Seven homologous chromosome pairs were engaged in circular form to give haploid karyotype of Lepilemur ruficaudatus. Only one homologous chromosome pair is dissociated and the other chromosome pairs rearranged in the circle to form haploid karyotype of Lepilemur edwardsi. The new gametes could be produced from these circular forms. When the new gamete fertilized with the same type of gamete, The new homozygote is produced as existing L. dorsalis, L. leucopus, L. edwardsi and L. ruficaudatus. These results support the theory that new species could be formed in hybrid population through activated chromosome fusion, chromosome rearrangement in circular from at zygotene stage and production of equilibrated gametes to form homozygote new species.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.11 no.1
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• pp.3-15
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• 2000

Objectives：There has been a rapid expansion of studies aimed at elucidating the genetic basis of autistic disorder, especially it’ relationship to fragile-X syndrome. The detection of fragile X chromosome(Xq27.3) by cytogenetic analysis has revealed many difficulties in testing. Therefore, to explore the relationship between autistic disorder and fragile X syndrome, this study administered molecular biologic methods which examined an unstable CGG repeat within the fragile X mental retardation-1(FMR-1) gene. Methods：Ninety nine autistic children and eight normal control children were tested. The number of CGG repeats within FMR-1 gene was measured after amplification by PCR, and cytogenetic analysis was also carried out to detect fragile site Xq27.3. Southern blot hybridization, using StB12.3 and/or Pfxa3 probe, was done for the patients showing expansion of more than 50 CGG repeats (premutation). Results：All but two autistic patients had no expansion in CGG repeats by PCR and there was no significant statistical difference in number of CGG repeat in comparison with normal control. Two autistic patients, considered as premutation by PCR analysis, had no full mutation or premutation by Southern blot hybridization. All autistic children tested did not have any abnormal karyotype or fragile site Xq27.3. Conclusions：These results suggest that autistic patients may not have abnormality in FMR-1 gene or abnormal expansion in CGG repeat. In conclusion, fragile X syndrome may not be antecedent of autistic disorder.

• Journal of the korean academy of Pediatric Dentistry
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• v.45 no.3
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• pp.386-392
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• 2018

Turner syndrome (TS) is a chromosomal disorder caused by monosomy of the X chromosome, with complete or partial absence of the second sex chromosome. Anomalies of root morphology have been found to occur more often in patients with TS, which make endodontic treatment challenging and requires special handling. The patients with TS may also have systematic problems such as cardiac or renal malformations, so in treating these patients it is important for clinicians not only to be aware of the characteristic intraoral findings, but also to make the patients have regular dental check-ups to prevent oral complications in advance. An 12-year-old girl who had been diagnosed with TS at the age of 10 years was referred due to discomfort in the bilateral mandibular premolar regions. Dens evaginatus and taurodontism were detected in all the mandibular premolars characteristically. The bilateral mandibular first premolars had three roots and the bilateral mandibular second premolars had periapical lesion with two roots. Due to the complexity of the root canal anatomy, root canal treatment were completed with a dental microscope to ensure adequate visualization. After 2 years of regular follow-up examinations, there were no clinical sign or symptom associated with the teeth, and no periapical lesion, was found. This case report describes the characteristic oral features and dental management of TS patients.

• Korean Journal of Animal Reproduction
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• v.20 no.3
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• pp.323-331
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• 1996

Predetermination of sex in mammalian species has many aspects of application including the prenatal diagnoses of genetic disorders in humans and sex-selected breeding programs in the animal industry. Embryos sexing can be carried out using the polymerase chain reaction (PCR) to amplify specific sequences present in the sex chromosomes, or by fluorescent in situ hybridization (FISH) of specific probes to the X and Y chromosomes. A 3.3 kb porcine male-specific DNA fragment (pEM39) was cloned previously in our laboratory. In this study, FISH and PCR methods were employed to examine if the pEM39 can be used a sex-specific DNA probes Porcine ovaries were obtained from a local slaughter house and oocytes collected. All oocytes were subjected to in vitro maturation followed by 1n vitro fertilization. Parthenogenetically activated embryos were served as a negative control. Embryonic samples were collected at the 2-cell stages and PCR was performed to analyze DNA. Among 10 embryos examined, four embryos were identified as males and six were females. The cloned male-specific DNA fragment showed male-specificity for the cells in the liver tissue and the porcine early embryos by FISH. It was also demonstrated that the cloned male-specific DNA is localized on the hetero chromatic region of the long arm in the Y chrom-osome (Yq) as shown by the FISH and karyotyping. The results suggest that the cloned male-specific DNA fragment may be useful for predetermination of sex with a few embryonic cells. The porcine male-specific sequence can be a reliable index for embryo sexing by PCR.

• The Korean Journal of Zoology
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• v.12 no.1
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• pp.22-28
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• 1969

In order to see if any suppressor system for the SD action was involved in natural populations of D. melanogaster samples from the populations of nine localities in Korea, Choonchun, Yusoo, Namhai, Shinchon(Seoul), Kwangjoo(Kyunggi), Koonsan, Kwangjoo(Chunnam), Jejoo and Pusan were analyzed by using the mating scheme for locating the suppressor on chromosome pairs. And also two kinds of recombinant SD lines R-1, the American line and $R(SD^NH -1)-1$, the Japanese one were used in order to see any difference of the response of the suppressor for differently originated SD. The results of the experiment are given below. (1) The suppressor system was involved in all lines of natural populations from nine localities of Korea. (2) Most of the suppressors were found to be located on the X chromosome and only a few lines from three populations showed to carry the suppressors on the second chromosome and on the third or fourth chromosoem. (3) The response of the suppressor for differently originated SD lines showed no significant difference.

• Proceedings of the Korean Society of Crop Science Conference
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• 1990.05a
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• pp.72-73
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• 1990

• Proceedings of the Korean Society of Crop Science Conference
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• 1990.05a
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• pp.70-71
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• 1990

• Proceedings of the Korean Society of Crop Science Conference
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• 1990.10a
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• pp.36-37
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• 1990

• Proceedings of the Korean Society of Crop Science Conference
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• 1990.10a
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• pp.34-35
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• 1990

• Neonatal Medicine
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• v.16 no.1
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• pp.71-75
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• 2009

There are few cases of partial trisomy of 9q, known as partial 9q trisomy syndrome with low birth weight, microcephaly, hypotelorism, beaked nose, small lip, long finger, hypertrophic pyloric stenosis, ventricular septal defect, and mental retardation. We report partial trisomy of 9q derived from a paternal chromosome, which has different features of other syndromes, including prematurity, atrial and ventricular septal defect, patent ductus arteriosus, persistent left superior vena cava, congenital hydronephrosis, and scrotal hernia.