• Korean Journal of Clinical Laboratory Science
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• v.39 no.3
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• pp.151-155
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• 2007

Diagnosis and prevention of cytogenetics diseases are one of the most important parts in prenatal care. For that reason, it is necessary to examine birth defects. However, there is no reliable statistical data about birth defects in our country. In this study, the ratio of birth defects were determined by cytogenetics analysis and amniocentesis, in addition, the usefulness of amniocentesis was analyzed. The screening test and the triple marker test were conducted for 3,325 pregnant women of between 15 and 22 weeks gestation. Amniocentesis was performed for 170 pregnant women who were positive in the two tests, 184 women of advanced maternal age and 48 women with family history of chromosome aberrations. Among 419 women, 8 pregnant women who were positive in the triple marker test, 1 woman who close to the cut-off value in the triple marker test, 2 women with advanced maternal age and 1 woman who has history of chromosome aberration pregnance that was positive in cytogenetics analysis. The overall incidence of chromosomal aberration was 12 cases including 7 cases of Down's syndrome, 1 case of Patau syndrome, 1 case of Klinefelter syndrome, 1 case of Edward syndrome, 1 case of Robertsonian translocation and 1 case of XYY syndrome. These results show that amniocentesis for pregnant women who need chromosome test in prenatal cytogenetics analysis is very useful.

• Journal of Life Science
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• v.17 no.6 s.86
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• pp.741-747
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• 2007

In the azoospermic patients, there are many of undiagnosed factors related to genetic bases. Among them, Klinefelter's syndrome (47,XXY; KS) and Y-chromosomal microdeletion with normal karyotype(46,XY; YMNK) are the most frequent causes of male infertility. This research focused on the comparative analysis of YMNK (n = 66) and K5 (n = 30) patients suffered from male infertility in Korean population. We used the polymerase chain reaction (PCR) approach including 19 pairs of sequence-tagged site (STS) primers for detecting the Y-chromosomal microdeletion on AZFa, b, c regions, indicating that Y chromosomal microdeletions were almost evenly occurred in AZF all regions in Korean population. Comparative analysis indicated that 34.9% YMNK and 73.4% KS patients harbored the microdeleted Y-chromosome. It seems to be high instability of Y-chromosome in KS patients than that of YMNK infertility patients. Taken together, genome instability containing microdeletion could bring male infertility with the disturbance of normal spermatogenesis.

• Clinical and Experimental Reproductive Medicine
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• v.13 no.2
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• pp.161-174
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• 1986

A chromosomal study was performed in a total of 162 urological patients during past 2$2{\frac{1}{2}}$ years (Feb. 1984 - Aug. 1986). Of these 78(48%) patients had abnormal chromosome complements. Among all patients with chromosome abnormalities, 88% (69/78) had aberrations of chromosome number, 8% (6/78) had aberrations of chromosome structure and 4% (3/78) had aberrations of both. 90% (65/72) of numerical abnormality was Klinefelter's syndrome and the structural abnormality rate (5.6%, 9/162) was less than that (6.99%) of general population. The chromosomal study was mandatory for the detection of intersex in small testes or hypospadias with cryptorchism or clitoromegaly or bilateral cryptorchism. But unilateral cryptochism or hypospadias with normal scrotal testes was not thought to be indication of the chromosomal study if the external genitalia are otherwise quite normal.

• Clinical and Experimental Reproductive Medicine
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• v.49 no.2
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• pp.101-109
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• 2022

Objective: Y chromosome microdeletions are the second most common genetic cause of male infertility after Klinefelter syndrome. The aim of this study was to determine the patterns of Y chromosome microdeletions among infertile Mongolian men. Methods: A descriptive study was performed on 75 infertile men from February 2017 to December 2018. Y chromosome microdeletions were identified by polymerase chain reaction. Semen parameters, hormonal levels, and testis biopsy samples were examined. Results: Among 75 infertile men, two cases of Y chromosome microdeletions were identified. The first case had an AZFa complete deletion and the other had an AZFc partial deletion. This study found that the proportion of Y chromosome microdeletions among infertile Mongolian men was 2.66%. Conclusion: The findings can be applied to in vitro fertilization and assisted reproductive technology, and our results will help clinicians improve treatment management for infertile Mongolian couples.

• Journal of Biomedical Engineering Research
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• v.18 no.3
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• pp.233-241
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• 1997

The research on chromosomes is very significant in cytogenetics since genes of the chromosomes control revelation of the inheritance plasma. The human chromosome analysis is widely used to study leukemia, malignancy, radiation hazard, and mutagen dosimetry as well as various congenital anomalies such as Down's, Klinefelter's, Edward's, and Patau's syndrome. The framing and analysis of the chromosome karyogram, which requires specific cytogenetic knowledge is most important in this field. Many researches on automated chromosome karyotype analysis methods have been carried out, some of which produced commercial systems. However, there still remains much room to improve the accuracy of chromosome classification and to reduce the processing time in real clinic environments. In this paper, we proposed a hierarchical artificial neural network(HANN) to classify the chromosome karyotype. We extracted three or four chromosome morphological feature parameters such as centromeric index, relative length ratio, relative area ratio, and chromosome length by preprocessing from ten human chromosome images. The feature parameters of five human chromosome images were used to learn HANN and the rest of them were used to classify the chromosome images. The experiment results show that the chromosome classification error is reduced much more than that of the other researchers using less feature parameters.

• Clinical and Experimental Reproductive Medicine
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• v.10 no.1
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• pp.7-24
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• 1983

On the basis of the semen analysis in 66 subjects, they were divided into six different groups: Group I consisted of 16 normal subjects with sperm counts of over 40 ${\times}10^6$/ml and motility of over 40 percent, Group II, 7 subjects with normal sperm counts, but motility of under 40 percent, Group III, 15 oligospermic patients with under 40 ${\times}10^6$/ml, Group IV 14 azoospermic patients, Group V, 10 patients with vasectomy and Group VI, 4 abnormal patients with 2 cases of hypoplastic testis, 1 case of Klinefelter's syndrome and 1 case of testis tumor. After seperation of semen into sperm and seminal plasma by centrifugation, the protein contents and the activities of hyaluronidase, ${\beta}$-N acetylglucosaminidase, ${\beta}$-glucuronidase, arylsulfatase, acrosin and azocoll proteinase in seminal plasma were measured. Vasectomy group has 30 percent less of total protein than normal group. For the comparison of enzyme activities of seminal plasma, it could be assumed that the enzymes in seminal plasma were not contaminated with the enzymes of spermatozoa by testing the enzymes of the seminal plasma from the vasectomy and azoospermic groups. It had been reported that hyaluronidase was only released from spermatozoa, however, the result obtained in this investigation showed that azoospermic and vasectomy group had high specific activities of hyaluronidase. The results indicated that hyaluronidase was not only from the testis but also from the male accessory sexual glands. Oligospermic group (Group III) showed the lowest total activity of hyaluronidase among them. The specific activities of ${\beta}$ -N-acetylglucosaminidase was high in oligospermic group (Group III) and low in vasectomy group (Group V). These results were contradictory with the pattern of hyaluronidase activities. This indicated that the spermatozoa which were stayed in epididymis would increase the activity of this enzyme. The specific activity of ${\beta}$ - glucuronidase was low in oligospermic and vasectomy groups. Group VI including testis tumor had remarkably high arylsulfatase activity. Arylsulfatase, a typical lysosomal enzyme, has been known to be released unusually large amounts from certain tumor cells. Arylsulfatase was also released with high activities from azoospermic and vascetomy group. This result indicated that this enzyme was also released from the sources other than testis. Acrosin, a proteolytic enzyme locating in the sperm acrosome, was not found throughout all the samples of seminal plasma. The activities of azocoll proteinase, a non-specific neutral proteinase was nearly identical in all the groups. This enzyme must have been released from the sources other than testis.