• Clinical and Experimental Reproductive Medicine
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• 제29권4호
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• pp.303-310
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• 2002

Objective s: To estimate the frequency of Y chromosome microdeletions in the Korean population of infertile men and to evaluate the relationship between microdeletion on the Y chromosome and clinical phenotypes of infertile men with idiopathic azoospermia and oligozoospermia. Materials and Methods: Genomic DNA was extracted from blood samples collected from 330 infertile men attending the Infertility Clinic at Samsung Cheil Hospital, Korea. Six sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified by polymerase chain reactions (PCRs). Results: Microdeletions on Y chromosome were detected in 35 (10.6%) of the 330 infertile men. Most of the microdeletions (91.4%) involved AZFb or AZFc. The high incidence of microdeletions were found in AZFc region (57.1%), but the low in AZFa (8.6%) and AZFb (5.7%). Larger microdeletions involving two or three AZF regions were detected in 28.6% of cases. All patients (6 patients) with deletion of AZFa region showed no germ cell phenotypes, Sertoli cell only syndrome or Leydig cell hyperplasia in histopathologic examinations. Conclusion: Microdeletions on the Y chromosome, especially, at AZFc/DAZ regions may be the major cause of azoospermia and severe oligozoospermia. We suggest that idiopathic infertile men have genetic counselling and microdeletion analysis on the Y chromosome before IVF-ET and ART program.

• 대한임상검사과학회지
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• 제40권2호
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• pp.71-74
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• 2008

Chromosomal abnormalities of abortus have also been used to investigate the most common etiology of spontaneous abortion, but the frequency and the types of spontaneous abortions have also demonstrated considerable variation among in different countries and races. A cytogenetic analysis of 75 abortuses was performed at the GenDix, Inc. from January, 2006 to December, 2007. The frequency of chromosome abnormalities in abortus was 32.0% (24/75 cases). Among the chromosomal abnormalities, trisomy was 62.5% (15/24 cases) and the most frequent trisomy was trisomy 21 with 26.6% (4/15 cases). The average maternal age of normal and abnormal karyotypes was $34.1{\pm}3.3$ and $34.3{\pm}3.3$. Cytogenetic analysis of abortus is important for diagnosis and genetic counseling for parents with spontaneous abortion.

• 한국가축번식학회지
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• 제10권1호
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• pp.36-41
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• 1986

These experiments were carried out to obtain basic information necessary for sexing embryos by chromosomal analysis. To observe metaphase chromosomes, all embryos developed to blastocysts were cultured in Ho, pp. & Pitts' medium containing 0.001% Colcemid under the gas phase of 5% CO2 in air at 37$^{\circ}C$ for 2 hours. The sex chromosome of mouse embryos shown normal development after culture in medium containing H-Y antiserum (10%, v/v) and complement (20%, v/v) also was confimed by chromosomal analysis. The results obtained in these experiments were summarized as follows: 1. Among 89 mouse blastocysts, the number of embryos identified to have XX and XY chromosome was 22(25%) and 25(28%), respectively and 42(47%) embryos were not identified. 2. Of total 40 mouse balstocysts cultured in medium containing H-Y antiserum and complement, 23(58%) embryos which were able to be discriminated their sex chromosomes were identified to be XX bearing embryos. 3. Sex chromosomes of a number of embryos subjected to chromosomal analysis were not identified. This result may be due to absence or poor quality of metaphase spreads.

• Animal cells and systems
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• 제10권2호
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• pp.65-71
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• 2006

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited renal disorders in the world. Mutations in PKD1 located on chromosome 16p13.3 are responsible for 85% of all the ADPKD patients whereas mutations in PKD2 on chromosome 4q21-23 are responsible for the rest of the cases. Genetic heterogeneity and the problems of mutation detection in PKD1 suggest that linkage analysis is an important approach to study the genetics of ADPKD. To evaluate the availability of six (CA)n microsatellite markers for the linkage analysis of ADPKD in the Korean population, we examined the allele frequencies and heterozygosities of the markers. With the exception of KG8, five markers were highly informative, with PIC values over 0.5, but the PIC value of KG8 marker was less informative than other five markers because of the low number of alleles. Therefore, this study will be useful in linkage analysis for ADPKD families in the Korean population.

• Asian-Australasian Journal of Animal Sciences
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• 제16권10호
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• pp.1402-1405
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• 2003

The QTL(quantitative traits loci) linkage mapping of Hanwoo (Korean Cattle) chromosome 6 for daily gain and marbling score was performed using 378 individuals from 18 paternal half-sib families in Hanwoo. Hanwoo chromosome 6 were mapped to total length of 394.2 cM between 28 microsatellite loci using 36 microsatellite primers of BTA 6 linkage group. The QTL analysis for daily gain in Hanwoo showed 8 microsatellite loci (BM3026-5.66, EL03-5.58, BM4311-5.29, ILSTS035-4.50, BMS1242-4.37, BM1329-3.67, BM415-3.11, BMS2460-3.03) in larger than LOD score 3.0. Based on the QTL analysis for marbling score, LOD scores of 12 microsatellite loci (BM415-8.88, BM3026-7.15, ILSTS093-5.45, ILSTS035-4.91, EL03-4.69, BMS690-4.52, BM1329-4.43, BMS511-3.74, BMS1242-3.66, BMS518-3.65, BM4311-3.41, BMC4203-3.36) were found larger than 3.0.

• Journal of Genetic Medicine
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• 제2권2호
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• pp.49-51
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• 1998

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

• Genomics & Informatics
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• 제17권3호
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• pp.27.1-27.9
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• 2019

Supernumerary B chromosomes were found in Lilium amabile (2n = 2x = 24), an endemic Korean lily that grows in the wild throughout the Korean Peninsula. The extra B chromosomes do not affect the host-plant morphology; therefore, whole transcriptome analysis was performed in 0B and 1B plants to identify differentially expressed genes. A total of 154,810 transcripts were obtained from over 10 Gbp data by de novo assembly. By mapping the raw reads to the de novo transcripts, we identified 7,852 differentially expressed genes (log₂FC > |10|), in which 4,059 and 3,794 were up-and down-regulated, respectively, in 1B plants compared to 0B plants. Functional enrichment analysis revealed that various differentially expressed genes were involved in cellular processes including the cell cycle, chromosome breakage and repair, and microtubule formation; all of which may be related to the occurrence and maintenance of B chromosomes. Our data provide insight into transcriptomic changes and evolution of plant B chromosomes and deliver an informative database for future study of B chromosome transcriptomes in the Korean lily.

• 한국생물정보학회:학술대회논문집
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• 한국생물정보시스템생물학회 2006년도 Principles and Practice of Microarray for Biomedical Researchers
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• pp.71-76
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• 2006

Comparative genomic hybridization (CGH) is a technique for studying chromosomal changes in cancer. As cancerous cells multiply, they can undergo dramatic chromosomal changes, including chromosome loss, duplication, and the translocation of DNA from one chromosome to another. Chromosome aberrations have previously been detected using optical imaging of whole chromosomes, a technique with limited sensitivity, resolution, quantification, and throughput. Efforts in recent years to use microarrays to overcome these limitations have been hampered by inadequate sensitivity, specificity and flexibility of the microarray systems. The oligonucleotide CGH microarray system overcomes several scientific hurdles that have impeded comparative genomic studies of cancer. This new system can reliably detect single copy deletions in chromosomes. The system includes a whole human genome microarray, reagents for sample preparation, an optimized microarray processing protocol, and software for data analysis and visualization. In this study, we determined the sensitivity, accuracy and reproducibility of the new system. Using this assay, we find that the performance of the complete system was maintained over a range of input genomic DNA from 5 ug down to 0.15 ug.

• Journal of Genetic Medicine
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• 제3권1호
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• pp.21-24
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• 1999

To study the X chromesome mosaicism in the cytogenetically pure 45,X Turner syndrome patients, we applied PCR technique using DNAs extracted from archived cytogenetic slides. We amplified the DNAs using nested primers targeted to a highly polymorphic short tandem repeat(STR) of the human androgen receptor gene(HUMARA) for the detection of X chromosome mosaicism. This assay is a very sensitive and useful method which can be applied to the DNAs extracted from archived cytogenetic slides to detect X mosaicism. We have tested 50 normal Korean females to determine whether the HUMARA locus is highly polymorphic among Koreans. 85% of Korean population showed heterozygosity in the HUMARA locus. We analysed the 24 DNAs extracted from archived slides of patients and abortuses with Turner syndrome in cytogenetic analysis. We observed the heterozygosities of 50% from pure 45,X patients, 83% from the patients with mosaic Turner syndrome and 8.3% from the abortuses of pure 45,X. Using the PCR technique of the HUMARA locus in the archived cytogenetic slides, we detected X chromosome mosaicism which could not be detected in cytogenetic analysis.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.83-88
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• 2020

Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, a triangular face, body asymmetry, and feeding difficulties. It is primarily diagnosed according to a clinical scoring system; however, the clinical diagnosis is confirmed with molecular testing, and the disease is stratified into the specific molecular subtypes. SRS is a genetically heterogeneous condition. The major molecular changes are hypomethylation of imprinting control region 1 in 11p15.5 and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Therefore, first-line molecular testing should include methylation-specific approaches for these regions. Here, we report an extremely low birth weight (ELBW) infant with intrauterine growth retardation, postnatal growth retardation, and dysmorphic facial appearance-characteristics consistent with the clinical diagnostic criteria of SRS. Methylation-specific molecular genetic analysis revealed UPD(7)mat, while the loss of heterozygosity was not detected on chromosomal microarray analysis. We present a case of SRS with suspected uniparental heterodisomy of chromosome 7 in an ELBW infant.