• 한국패류학회지
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• 제31권4호
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• pp.315-322
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• 2015

이매패류의 성은 자웅이체와 자웅동체로 구분되며, 자웅이체는 동시자웅동체와 비동시자웅동체로 나누어진다. 비동시자웅동체는 계절에 따른 성의 전환을 의미한다. 일반적으로 자웅이체 이매패류의 경우 형태학적 성으로 표현되는 암, 수는 개체의 생활사 가운데 일정한 한 시기에 국한된 것이다. 개체의 성을 정확히 확인하기 위해서는 성을 표지한 후, 생활사 동안 성의 변화를 연속적으로 추적해야 한다. 이매패류에서 성전환과 비동시자웅동체는 굴과, 가리비과, 백합과 및 돌조개과 등의 이매패류에서 보고되고 있다. 이들 연구의 대부분은 동일 개체군에서 연령에 따른 성비의 변화를 증거로 이러한 결론에 도달하게 되었다. 비동시자웅동체 이매패류에서 성의 변화는 보통 방란, 방정 후 생식소의 비활성기에 일어난다. 이매패류에서 성결정과 성의 변화에는 유전적 요인과 환경적 요인 두 가지가 관여하지만, 이에 관한 이들의 영향에 관해서는 세부적인 연구가 필요하다.

• 생명과학회지
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• 제20권12호
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• pp.1902-1905
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• 2010

본 연구는 무지개송어 양식 산업의 생산성 향상을 위한 일환으로 염색체공학 기법을 이용하여 전 암컷 무지개 송어의 대량생산을 유도 하였다. 자성발생 2배체를 유도한 후 17 alpha-methyltestosteron으로 성전환을 성공적으로 유도하였다. 성전환된 수컷에서는 일반 암컷 모양을 띤 생식소가 형성 되었으나, 수정관의 발달은 보이지 않는 전형적인 성전환 개체의 특징을 나타내었다. 성전환된 자성발생 2배체 가짜수컷을 이용하여 정상 암컷과 단순교배로 발안율 55.7%, 부화율 52.9%의 전 암컷 집단 97,850 마리를 얻을 수 있었고, 4개월 사육 후 치어기(6~7 cm)때의 생식소 확인 결과 100% 암컷임이 확인되었다.

• Journal of Genetic Medicine
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• 제2권1호
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• pp.11-15
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• 1998

This paper reports 3 cases with 46,XX sex reversed male. Three 46,XX hypogonadal subjects showed complete sex reversal and had normal phallus and azoospermia. We studied them under clinical, cytogenetic and molecular aspects to find out the origin of the sex reversal. Patients had markedly elevated serum follicle-stimulating hormone (FSH) and lutenizing hormone (LH) and decreased or normal range of serum testosterone. The testicular volumes were small (3-8ml). Testicular biopsy showed Leydig cell hyperplasia and atrophy of seminiferous tubules. We obtained the results of normal 46,XX, and the presence of Y chromosome mosaicism was ruled out through XY dual fluorescent in situ hybridization (FISH). By using polymerase chain reaction (PCR), we amplified short arm (SRY, PABY, ZFY and DYS14), centromere (DYZ3), and heterochromatin (DYZ1) region of the Y chromosome. PCR amplification of DNA from these patients showed the presence of the sex-determining region of the Y chromosome (SRY) but didn't show the centromere and heterochromatin region sequence. The SRY gene was detected in all the three patients. Amplification patterns of the other regions were different in these patients; one had four amplified loci (PABY+, SRY+, ZFY+, DYS14+), another had two loci (SRY+, ZFY+) and the other had two loci (PABY+, SRY+). We have found that each patient's translocation elements had different breakpoints at upstream and downstream of the SRY gene region. We conclude that the testicular development in 46,XX male patients were due to insertion or translocation of SRY gene into X chromosome or autosomes.

• Journal of Genetic Medicine
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• 제13권2호
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• pp.78-88
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• 2016

Purpose: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. Materials and Methods:SRY-negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. Results: Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. The SRY gene was confirmed to be absent in three of these 19 cases (15.8%). Conclusion: We report three rare cases of SRY-negative 46,XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY.

• 한국수정란이식학회지
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• 제23권2호
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• pp.119-125
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• 2008

A 3-month-old American Cocker spaniel was presented at the Veterinary Teaching Hospital, Chungbuk National University, for examination of urinary tract after dissection of vaginal mass at local clinic before 10 days. Clinical examination of the affected bitch revealed a normal sized vulva in a normal anatomical position with a grossly enlarged clitoris, which contained an os clitoris. On examinations of the genital gland, there were testis, epididymis, ductus deferens and uterus. The histology of both gonads was primarily testis. Seminiferous tubules were divided into many parts by fibrous connective tissue. A small number of spermatogonia was present, but large numbers of Leydig's cells were existed. A normal female karyotype (78, XX) was detected in metaphase spreads obtained from cultured peripheral lymphocytes. Y chromosome specific sequences were not detected in genomic DNA by PCR. After 27 months, the os clitoris was larger than 3-month-old dog and os bone was more calcified than young age. Combining the results of cytogenetic, molecular genetic and histological examinations, the dog was diagnosed as a female hermaphrodite with Sry-negative XX sex reversal.

• 한국가축번식학회지
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• 제13권1호
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• pp.40-48
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• 1989

Guppy fry were treated for the first 40 days of life with 0, 20, 40, 60 & 100$\mu\textrm{g}$ of estradiol per gram of food in order to change the sex of normal males to functional females(genetic male). The present investigation deals with the effects of steroid hormones, such as $\beta$-estradiol and testosterone, on the sex differentiation in guppy and tilapia. The results obtained were summarized as follows. 1. In B (20$\mu\textrm{g}$/g diet) group 17$\beta$-estradiol-treated, 67.8% of male offsprings were produced. 2. In D (60$\mu\textrm{g}$/g diet) group 17$\beta$-treated, 67% of female offsprings were produced. 3. B, D groups of genetic male brooders had significantly different effects (P<0.01) upon sex ratios of their progeny. 4. This strongly indicates that sex direction has been achieved and that the male is the heterogametic sex. 5. The group that produced the highest percentage of male offspring(male percentage of observed number to expected number was 91%) contained only full-sibling male brooders to the sex-reversed female brooders. 6. After 7 months following treatment, the sex-reversed males had ovarian portion in the anterior region and a testicular portion in the posterior region of the same intersexual gonad, respectively. 7. At 7 months after treatment, the ovareis revealed a complete arrest of the ovarian formation, and appearances of spermatogenetic cell cysts among surviving auxocytes. 8. In most of sex-reversed fish, anterior portion of test is was devoid of sperm ducts including the seminal vesicle and vas deferens. 9. The male transferrin showed two strong bands, while the female transferrin showed a single weak band. 10. One of the two bands of male transferrin showed the same mobility with band of female transferrin.

• 한국양식학회지
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• 제13권4호
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• pp.331-338
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• 2000

본 연구는 초암컷을 이용한 나일틸라피아의 전수컷 자손 집단 생산 기법을 확립하기 위하여 수행되었으며, 초암컷과 성전환 수컷(실험구) 그리고 정상 암컷과 정상 수컷(대조구)을 자연 교배시킨 후 실험구와 대조구의 종묘생산량과 생산된 종묘 성비를 조사하였고, 초암컷과 정상 암컷의 산란 주기 및 산란 회수를 비교하였다. 대조구에서 생산된 자손의 수컷률은 53.2${\pm}$10.2%였음을 비해 실험구에서는 93.5${\pm}$6.4%의 수컷 자손 집단이 생산되었다. 60일 동안 초암컷은 총 산란 회수는 19회로서 정상 암컷의 24회에 비해 적었으나, 산란한 개체의 평균 산란 주기는 초암컷과 정상 암컷이 각각 21.4${\pm}$10.4일 및 21.1${\pm}$9.2일로서 차이가 없었다. 종묘 생산량에 있어서 실험구는 3,085${\pm}$562.9 마리로서 대조구의 3,797${\pm}$636.4 마리와 유의한 차이는 없었다. 수용한 암컷 마리당 일간 종묘 생산량과 암컷 어체중당 일간 생산량에 있어서도 실험구와 대조구간 유의한 차이는 없었다. 이상의 결과로부터 초암컷은 성전환 수컷과의 교배에서 높은 수컷률을 보이는 자손 집단을 생산하였고, 정상적인 산란 능력을 가지는 것으로 조사되었다. 따라서 초암컷을 이용한 수컷 자손 집단의 대량 생산은 양식 생산성 향상을 위해 매우 유용한 방법인 것으로 판명되었다.

• Journal of Genetic Medicine
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• 제5권2호
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• pp.145-149
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• 2008

46,XX 남성은 여성의 핵형을 가지나, 남성의 표현형을 나타내는 경우를 말한다. SRY 유전자는 Y 염색체(Yp 11.31)의 단완에 위치하며 인간에서 성을 결정하는 중요한 요인이다. 본 증례는 무정자증의 임상증상이 보이는 46,XX 남성의 정확한 원인분석을 위해 말초혈액분석에서 세포유전학적인 방법과 분자유전학적인 방법을 함께 병행한 보고이다. 남성 표현형과 비교하여 성에 불일치 소견이 보여, 그 원인을 찾기 위해 QF-PCR, FISH와 Multiplex PCR 분석 등의 분자유전학적 방법을 적용하였다. 그 결과, 여성의 성 염색체 XX를 가지되 SRY 유전자가 존재하여 남성 표현형을 보이면서 무정자증이 된 경우이다. 따라서, 일반적인 세포유전학 방법을 기초로 QF-PCR, FISH와 Multiplex PCR 분석 등과 같은 분자유전학적 방법을 병행하면 환자의 정보를 빠르고 정확하게 제공하는데 효과적이고 유용하다.

• Annals of Pediatric Endocrinology and Metabolism
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• 제23권4호
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• pp.220-225
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• 2018

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent $M{\ddot{u}}llerian$ duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.