• Clinical and Experimental Reproductive Medicine
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• 제26권3호
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• pp.467-474
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• 1999

Objectives: Cytogenetic investigations were carried out on 770 women with primary (n=560) and secondary amenorrhea (n=210) to determine the frequency of chromosomal or genetic causes of amenorrhea. Materials and Methods: In 770 women with primary amenorrhea (n=560) and secondary amenorrhea (n=210), chromosomal analysis were performed. Results: 1) The most prevalent age group is 16-20 years of age group with primary amenorrhea and 26-30 years of age group with secondary amenorrhea. 2) Out of 560 cases of primary amenorrhea, 343 cases (61.3%) had the normal chromosome constitution and 217 cases (38.7%) had the abnormal chromosome constitution including 46,XY. 3) In 217 cases of abnormal chromosome of primary amenorrhea, 57 cases (26.3%) had 45,X and 34 cases (15.8%) had the 46,XY, 24 cases (11.0%) had 45,X/46,X,i (Xq), 23 cases (10.6%) had 45,X/46,X,+mar and 14 cases (6.6%) had 45,X/46,XY. 4) Out of 210 cases of secondary amenorrhea, 181 cases (86.2%) had the normal chromosome constitution and 29 cases (13.8%) had the abnormal chromosome. 5) In 29 cases of abnormal chromosome of secondary amenorrhea, 7 cases (24.1%) had 45,X/46, X,i (Xq), 4 cases (13.8%) had 45,X/46,XX. Conclusion: High percentage of chromosomal abnormalities was diagnosed in primary amenorrhea and most of them were sex chromosome anomalies. In secondary amenorrhea, the prevalence was lower than primary amenorrhea, so a preselection of patients with secondary amenorrhea for cytogenetic investigations seems to be necessary.

• Journal of Genetic Medicine
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• 제3권1호
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• pp.5-10
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• 1999

This is a case report of 46,XY female phenotype (46,XY karyotype, no pubic hair, blind vagina and absence of uterus)in an 18-year-old patient. To confirm whether a Y chromosome has a structural abnormality, fluorescent in situ hybridization (FISH) with the chromosome X/Y cocktail probe was simultaneously performed, and the six loci [PABY, RPS4Y(sy16, sy17), ZFY, DYS14] on the short arm, one locus (DYZ3) on the centromere and one locus (DYZ1) on the long arm were amplified by polymerase chain reaction (PCR). The probes used FISH hybridized to centromere of the X chromosome and heterochromatin region (Yq12) of the Y chromosome, and all PCR related Y chromosome showed positive band like normal male. From the results obtained, it seemed that the Y chromosome from the 46,XY female was structurely normal. Especially, the SRY gene has been equated with the mammalian testis-determining factor, and absence or point mutation in the SRY gene causes XY female. To detect the point mutations of SRY sequences, single-strand conformation polymorphism (SSCP) assay was used. Our results confirm that this patient has no mutation in the SRY gene on the Y chromosome.

• 한국동물학회:학술대회논문집
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• 한국동물학회 2001년도 공동 춘계학술대회
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• pp.91.2-91
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• 2001

Allelic ladders ; DNA profiling ; Koreans ; STRs ; Y-chromosome haplotypes

• Journal of Radiation Protection and Research
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• 제29권4호
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• pp.243-249
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• 2004

본 연구는 소핵분석과 염색체 1번 및 4번의 DNA probe를 이용한 FISH 기법을 병행하여 방사선에 의한 소핵과 이수성에 관여하는 각 염색체의 감수성을 평가하고자 하였다. 방사선 선량에 따라 소핵의 빈도는 증가하였으며 염색체 1번과 4번의 이수성도 대조군, 1 Gy 및 2 Gy 에서 각각 2000개의 BN세포 당 9개, 47개 및 71개로 유의하게 증가하였다. 염색체 1번의 이수성 빈도는 4번에 비해 높게 관찰되었다. 염색체 1번 및 4번을 포함하는 소핵도 방사선의 선량에 따라 증가하였으며, 소핵내 염색체 1번의 포함빈도가 4번보다 높게 관찰되었다. 또한 방사선에 의한 소핵 중 낮은 빈도의 염색체 signal를 포함하는 소핵이 관찰됨으로써 방사선에 의한 소핵은 대부분 절단에 의한 것임을 확인할 수 있었다. 따라서 본 연구 결과 방사선은 이수성을 유도하며 이에 염색체가 다르게 관여할 수 있음을 보여준다.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.80-83
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• 2007

고리염색체(Ring chromosome)는 매우 낮은 빈도로 발견되는 염색체 이상으로 모든 번호에서 보고되고 있으며 특히 끝곁 매듭 염색체(acrocentric chromosome)에서 빈번하게 관찰 된다. 본 증례는 ring chromosome(고리염색체)11의 산전진단에 관한 것이다. 산모는 36세의 여성으로 모체혈청검사에서 에드워드 증후군의 표시인자가 증가되어, 태아의 염색체 검사를 위해 임신 19.5주에 양수천자술을 시행하였다. 결과는 46,XX,r(11)[65]/45,XX,-11[16]/46,XX[34]로 고리염색체(ring chromosome) 11이 mosaic으로 관찰되었다. 혈액을 이용한 부모 염색체 검사는 모두 정상이었다. 임신 20주에 실시된 정밀초음파 검사에서는 자궁내성장장애(IUGR) 소견을 보였다. 모자익시즘의 확인을 위해 임신 22주에 재대 혈액을 이용한 두번째 염색체 검사 결과는 46,XX,r(11)(p15.5q24.2)[229]/45,XX,-11 [15]이었으며 첫번째 검사에서 관찰되지 않았던 다양한 형태의 고리염색체(ring chromosome)가 소수의 세포에서 관찰되었다. 고리염색체(ring chromosome)11에 대한 FISH 검사에서는 11 염색체의 장완과 11 염색체의 단완의 subtelomeric 부위가 결실되어 있었다.

• 한국환경성돌연변이발암원학회:학술대회논문집
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• 한국환경성돌연변이발암원학회 2003년도 추계학술대회
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• pp.147-147
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• 2003

• Asian-Australasian Journal of Animal Sciences
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• 제31권3호
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• pp.449-456
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• 2018

Objective: Nanog, a homeodomain protein, has been investigated in humans and mice using embryonic stem cells (ESCs). Because of the limited availability of ESCs, few studies have reported the function and role of Nanog in porcine ESCs. Therefore, in this study, we investigated the location of the porcine Nanog chromosome and its basal promoter activity, which might have potential applications in development of ESCs specific marker as well as understanding its operating systems in the porcine. Methods: To characterize the porcine Nanog promoter, the 5'-flanking region of Nanog was isolated from cells of mini-pig ears. BLAST database search showed that there are two porcine Nanog genomic loci, chromosome 1 and 5, both of which contain an exon with a start codon. Deletion mutants from the 5'-flanking region of both loci were measured using the Dual-Luciferase Reporter Assay System, and a fluorescence marker, green fluorescence protein. Results: Promoter activity was detected in the sequences of chromosome 5, but not in those of chromosome 1. We identified the sequences from -99 to +194 that possessed promoter activity and contained transcription factor binding sites from deletion fragment analysis. Among the transcription factor binding sites, a Sp1 was found to play a crucial role in basal promoter activity, and point mutation of this site abolished its activity, confirming its role in promoter activity. Furthermore, gel shift analysis and chromatin immunoprecipitation analysis confirmed that Sp1 transcription factor binds to the Sp1 binding site in the porcine Nanog promoter. Taken together, these results show that Sp1 transcription factor is an essential element for porcine Nanog basal activity the same as in human and mouse. Conclusion: We showed that the porcine Nanog gene is located on porcine chromosome 5 and its basal transcriptional activity is controlled by Sp1 transcription factor.

• 한국발생생물학회:학술대회논문집
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• 한국발생생물학회 2003년도 제3회 국제심포지움 및 학술대회
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• pp.92-92
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• 2003

Accurate analysis of nuclear status is needed when biopsied-blastomeres are used for embryo sexing. In this study, the nuclear status of blastomeres derived from 8- to 16-cell stage IVF bovine embryos was analyzed to evaluate the representative of single blastomere for embryo sexing. When 55 embryos were analyzed by PCR following biopsy, the coincident rate of sex determination between biopsied-single blastomere and matched blastocyst by PCR was 80 %. Karyotyping of biastomeres in 8- 16-cell stage bovine embryos was conducted to assess chromosome status of IVF embryos. To establish karyotyping of blastomeres, concentrations of vinblastine sulfate and duration of exposure time for metaphase plate induction with 8- to 16-cell stage bovine embryos were tested. The most effective condition for induction of metaphase plate (>45%) was 1.0 ug/ml vinblastine sulfate treatment for 15 h. In 22 embryos under the condition, only 8 embryos out of ten that had a normal diploid chromosome complement showed a sex-chromosomal composition of XX or XY (36.4%) and 2 diploid embryos showed mosaicism of the opposite sex of XX and XY in blastomeres of embryo (9.1%). One haploid embryo contained only one X-chromosome (4.5%). Four out of the other 11 embryos having a mixoploid chromosomal complement contained haploid blastomere with wrong sex chromosome (18.2%). These results suggested that morphologically normal bovine embryos derived from IVF had considerable proportion of mixoploid and sex-chromosomal mosaicism which could be the cause of discrepancies of the sex between biopsied-single blastomere and matched blastocyst by PCR analysis.

• Journal of Genetic Medicine
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• 제13권2호
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• pp.95-98
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• 2016

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

• Clinical and Experimental Pediatrics
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• 제46권8호
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• pp.831-835
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• 2003

저자들은 특징적인 안면 기형과 발열이 있는 semilobar type의 holoprosencephaly 환아에서 국내에서는 보고된 바 없는 염색체 검사상 21번 염색체 단체성이 동반된 holoprosencephaly 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.