• 한국동물학회지
• /
• 제33권2호
• /
• pp.222-230
• /
• 1990

한국산 청서(Sciunis vulgaris corea)와 다람쥐(Tamias sibiricus asiaticu)의 핵형을 일반 Giemsa- stain과 C-banding stain방법으로 분석하였다. 청서의 염색체 수는 2n=40이였으며 이 중 6쌍은 중부, 8쌍은 차중부, 3쌍은 차단부 그리고 2쌍은 단부 염색체이었고 X 염색체는 차중부,Y염색체는 acro또는 차단부 염색체로서 NF(arm number)=72(성염색체 제외)를 나타내었다. 다람쥐의 염색체 수는 2n=38이었으며 이 중 3쌍은 중부, 4쌍은 차중부, 5쌍은 차단부, 그리고 6쌍은 단부 염색체이었고 X염색체는 차중부, Y염색체는 중부염색체로서 NF=60을 나타내었다. C-banding분석결과, 청서의 염색체에서는 각 경우 대부분 동원체 (centromere)부위와 말단부(telomere)에 주로 구조적이질염색질이 분포하였고 다람쥐에서는 몇몇 염색체상(제2,3,9번)을 제외하고는 주로 동원체 부위에 구조적이직염색질이 분포하였다. 이러한 결과들로 보아 핵형상의 분화에 non-Robensonian 재배열과 구조적 이질염색질의 분포가 중요한 작용을 한 것으로 생각된다.

• 생명과학회지
• /
• 제11권4호
• /
• pp.354-361
• /
• 2001

Chromosomal characteristics of New Zealane White rabbit was studied at meiosis and mitosis. The meiotic chromosomal preparations were mad with the modified air-drying method and karyotype analysis was performed with the G-banding technique, using isolated mitotic metapase chromosomes of the New Zealand White rabbit. Chromosomes, sex vesicles and centromeres could be classified in the zygotene and the pachytene of the meiosis I. The hair-like processes projecting laterally from the axes of bivalent chromosomes at the mid-to-late pachytene were observed and made the appearance of the lampbrush chromosome structure. Chromosomes could be classified onthe basis of the numbers and locations of chiasma in the diakinesis. Twenty-one autosomal bivalents and a single unequal terminally associated X-Y bivalent were observe during the late prophase and the metaphase of the meiosis I. Most of the bivalent types observed in the New Zealand White rabbit spermatrocytes were 1CH, 1TAl, and 2TA bivalents. The mean chiasma frequency(CF) of the male New Zealand White rabbit was 30.2 and it was found that the CF value tended to decrease through diakinesis and the metaphase I. The karyotype of the New Zealand White rabbit was a male chromosome number of 44(2n=44) comprising 8 pairs of metacentric, 9 pairs of submetacentric, 4 pairs o acrocentric autosomes, metacentric X chromosome and acrocentric Y chromosome.

• Clinical and Experimental Reproductive Medicine
• /
• 제18권2호
• /
• pp.223-231
• /
• 1991

During the years 1984 to 1989, in order to determine of chromosome abnormalities are associated with recurrent spontaneous abortions, cytogenetic studies were performed 384 couples. Abnormal karyotypes were found in 51(13.3%) couples. There was no apparent relation with the number of abortions. The abnormalities were as follows: 17(4.4%) balanced translocation; 15(3.9%) mosaicisms; 17(4.4%) pericentric inversion; 2(0.5%) addition or isochromosome. Chromosome abnormalities were observed in 34(67%) of the wives and 17(33%) of the husbands. In addition, we detected polymorphic variants of chromosomes in 89(23.2%) subjects. Reciprocal translocations(13/17) were more common than the robertsonian type(4/17). All of the mosaicisms were associated with the sex chromosomes in 10 females and 5 males subjects. Pericentric inversions were most common in chromosome 9. Compared to previously studied general populations, significantly higher frequencies of translocations, mosaicisms and inversions were found in couples with repetitive spontaneous abortion. This suggests that couples should have chromosome studies after two or more abortions.

• Journal of Oral Medicine and Pain
• /
• 제9권1호
• /
• pp.127-138
• /
• 1984

The author had tried to identify the sex from single tooth by detecting F-body of Y-chromosome in the nucleus of the dental pulp cells of 70 persons aged from 4 to 61 years under a fluorescent miscroscope. The results were as follows : 1. In the cell nuclei of male and female dental pulp at refrigeratory, the rate of F-body appearancd ranged 42-86%(average 61.06%) in male, while it was 0-6%(average 1.86%) in female, indicationg that male could be distinctly differentiated from female by F-body. 2. With male and female dental pulp puterfide by leaving in at room temperature, the rate of F-body appearance ranged 35-58%(average 48.20%) in male, 1-3%(average1.70%) in female, indicating that it was possible to distinguish male and female by F-body. 3. Even in heat-treated male teeth at $100^{\circ}C$,10 mins, the rate of F-body appearace proved to be 32-56%(averaged 42.50%), also indicating the possibility of identifying male. 4. When detecting of F-body in process of time, the rate of F-body appearance did not show major charges. 5. It was reaffirmed that F-body detection method was a positive determination method of male.

• Clinical and Experimental Reproductive Medicine
• /
• 제24권3호
• /
• pp.369-375
• /
• 1997

Studies were conducted to determine the efficiency of decondensation protocols. Sperm obtained from seven normal donors was immediately washed after liquefaction and then decondensed using the method of West et al. (1989) and my original protocol. My optimized protocol entailed mixing 1 ml aliquots of semen with 4 ml phosphate buffered saline (PBS). Following centrifugation, pellets were resuspended in 1 ml PBS containing 6 mM EDTA. After centrifugation, pellets were resuspended in 1 ml PBS containing 2 mM dithiothreitol at $37^{\circ}C$ for 45 min. Following mixing with 2 ml PBS and centrifugation, pellets were resuspended by vortexing. While vortexing, 5 ml of fixative were gently added. Slide preparation was accomplished using the smear method and it was stored at $4^{\circ}C$. When comparing these protocols, the degree of sperm decondensation and head swelling was monitored by measuring nuclear length, area, perimeter, and degree of roundness using FISH analysis software. Apparent copy number for chromosome 1 and, separately, for the sex chromosomes was determined by FISH using satellite DNA probes for loci DIZ1, DXZ1 and DYZ3. Sperm treated by my decondensation protocol showed significant increases (p<0.05) in length, area, perimeter, and degree of roundness. There was a significant decrease (p<0.05) in the frequency of nuclei displaying no signal but no change in the frequency of nuclei with two signals in samples decondensed by my protocol. My data suggested that decondensation using my original protocol may lower the frequency of cells with spurious "nullisomy" due to hybridization failure without inducing spurious "disomy" resulting from increased distances between split signals.

• 한국임상수의학회지
• /
• 제25권3호
• /
• pp.221-223
• /
• 2008

SRY gene is normally responsible for testis induction, yet testis development can occur in the absence of SRY. In here, we analyzed the SRY-negative sex reversal in cocker spaniel, at 1.5 year-old. The attacked dog was suffered from enlarged clitoris, and resulted in disorder of urination. By surgically approach, enlarged clitoris and one testis, which are apparently seen, are removed. Additionally, thorough the abdomen surgery, uterus and ovary-like mass were removed. The dog had XX, chromosome, showed negative for SRY-gene, and the mass had the ovary-testis structure. In other words, based on the macroscopic, cytogenic, and histological study, we can diagnose the cocker spaniel as SRY-negative sex reversal.

• 한국축산식품학회지
• /
• 제27권3호
• /
• pp.351-356
• /
• 2007

본 연구는 포유류의 Y-염색체상에 존재하는 SRY 및 ZFY의 웅성 특이적 성 결정 유전자를 이용하는 PCR 기법으로 쇠고기 성판별 기술을 개발하고자 수행하였다. 성 결정 유전자 영역의 특정 염기서열을 포함하는 primer를 각각 설계 합성하고 이들 primer를 이용하여 PCR증폭을 실시한 다음, 각각의 증폭산물을 1.5% agarose gel에 전기영동하여 웅성 특이적 DNA band의 증폭여부를 확인하였다. SRY 유전자에서 웅성개체 쇠고기는 1,348 bp 크기의 단편을 가진 DNA band가 검출되었으나, 자성개체의 경우 DNA band가 전혀 검출되지 않은 것을 확인 할 수 있었다. 또한, ZFY 유전자에서 웅성개체의 쇠고기는 979 bp 크기의 단편을 가진 DNA band가 모두 검출되었으나, 자성개체의 쇠고기에서는 역시 DNA band가 전혀 검출되지 않았다. 즉, SRY 및 ZFY 유전자는 모두 숫소에서 유래한 쇠고기에서 웅성 특이적인 DNA band가 정확히 검출된 반면 암소에서 유래한 쇠고기에서는 웅성 특이적 DNA band가 전혀 검출되지 않았다. 또한 쇠고기 성 감별법을 도축 후 가공 유통판매단계에 실제 활용 가능성을 검증하고자 시중에 유통되고 있는 등심 및 갈비 포장육 350시료를 무작위 추출하여 성 판별을 실시한 결과 숫소가 252시료(72%) 그리고 암소가 98두(28%)로 조사되었다. 따라서 본 연구에서 개발한 SRY 또는 ZFY의 웅성 특이적 성 결정 유전자를 이용하는 쇠고기 성 감별기술은 생산단계는 물론 도축 후 가공 유통 판매되고 있는 모든 쇠고기의 암수 성감별을 위한 유용한 DNA 표지인자로 활용할 수 있을 것으로 기대된다.

• Journal of Genetic Medicine
• /
• 제19권2호
• /
• pp.115-119
• /
• 2022

The 46,XX testicular disorder of sex development (DSD) is a rare condition in which 46,XX individuals develop testicular differentiation and virilization. Translocation of the sex-determining region Y (SRY) onto the X chromosome is the main cause of 46,XX testicular DSD, whereas dysregulation between pro-testis and pro-ovarian genes can induce SRY-negative 46,XX testicular DSD. Nuclear receptor subfamily 5 group A member 1 (NR5A1), a nuclear receptor transcription factor, plays an essential role in gonadal development in XY and XX embryos. Herein, we report the first Korean case of SRY-negative 46,XX testicular DSD with a heterozygous NR5A1 p.Arg92Trp variant. The patient presented with a small penis, bifid scrotum, and bilateral undescended testes. Whole exome sequencing revealed a heterozygous missense variant (c.274C>T) of NR5A1. Our case highlights that NR5A1 gene variants need to be considered important causative factors of SRY-negative non-syndromic 46,XX testicular DSD.

• Clinical and Experimental Reproductive Medicine
• /
• 제44권4호
• /
• pp.201-206
• /
• 2017

Objective: The aim of this study was to compare the efficacy of swim-up and density gradient centrifugation (DGC) for reducing the amount of sperm with fragmented DNA, sex chromosome aneuploidy, and abnormal chromatin structure. Methods: Semen samples were obtained from 18 healthy male partners who attended infertility clinics for infertility investigations and were processed with swim-up and DGC. The percentages of sperm cells with fragmented DNA measured by the sperm chromatin dispersion test, normal sex chromosomes assessed by fluorescence in situ hybridization, and abnormal chromatin structure identified by toluidine blue staining were examined. Results: The percentage of sperm cells with fragmented DNA was significantly lower in the swim-up fraction (9.7%, p= 0.001) than in the unprocessed fraction (27.0%), but not in the DGC fraction (27.8%, p= 0.098). The percentage of sperm cells with normal X or Y chromosomes was comparable in the three fractions. The percentage of sperm cells with abnormal chromatin structure significantly decreased after DGC (from 15.7% to 10.3%, p= 0.002). The swim-up method also tended to reduce the percentage of sperm cells with abnormal chromatin structure, but the difference was not significant (from 15.7% to 11.6%, p= 0.316). Conclusion: The swim-up method is superior for enriching genetically competent sperm.

• 부모자녀건강학회지
• /
• 제2권
• /
• pp.53-63
• /
• 1999

The purpose of this study is to describe how what influence sexuality has on women's health. Sex is determined by the sex chromosome: but sociocultural norms have much influence on the sex role of a woman or man. Women's sexuality has had a negative impact on them in a male-dominated society, which destroyed women's health, put women in a powerless position and forced them to live as dependent persons. Sociocultural perception of the sex role has not been very open, and very strict rules have controlled those perceptions; but currently these perceptions have been changing dramatically. Especially, women's sex role has changed, bringing about many problems: the number of women engaging in premarital sex, the number of unwed mothers, the number of pregnancies without marriage, the divorce rate, and the number of dysfunctional families have all increased. Those kinds of problems have negative effects on women, children and members of the whole family. Sexually transmitted disease because of free sex is a serious health issue for women: the number of women with AIDS has increased rapidly. Another big issue is sexual abuse, which is insulting to women, decreases women's self-esteem, increases depression, puts women in a powerless position and eventually causes women to get sick. Male-preference (among newborns) ideology raises health issues for women, such as artificial abortion. In the area of sex differentiation, therefore, we have to change people's thinking from male-preference ideology to equal sex preference. Finally, we have to use a holistic approach for women's health and increase awareness of the fact that the sex role and women's health are very important for the family, society and nation. Women's health is the nation's power.