• 제목/요약/키워드: Reproductive genetics

검색결과 174건 처리시간 0.022초

The effects of sesame oil and different doses of estradiol on testicular structure, sperm parameters, and chromatin integrity in old mice

  • Mohammadzadeh, Masoomeh;Pourentezari, Majid;Zare-Zardini, Hadi;Nabi, Ali;Esmailabad, Saeed Ghasemi;Khodadadian, Ali;Talebi, Ali Reza
    • Clinical and Experimental Reproductive Medicine
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    • 제48권1호
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    • pp.34-42
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    • 2021
  • Objective: Studies of the effects of estrogens on the male reproductive system have emphasized the role of these hormones in male fertility. Sesame oil has many phytoestrogenic compounds and may improve male fertility. This study investigated the effects of sesame oil and different concentrations of estrogen on sperm parameters and DNA integrity in male mice. Methods: Twenty old NMRI (The Naval Medical Research Institute) male mice (40 weeks; weight, 30-35 g) were treated with sesame oil or different concentrations of estrogen (estradiol, 1 and 10 μL/kg/day) or received no treatment (controls). After 35 days, sperm parameters and DNA integrity were assessed and analyzed. Results: Sperm count, progressive motility, and morphology were decreased in the group that received 10 μL/kg of estradiol. A remarkably lower percentage of DNA fragmentation and protamine deficiency were detected in the group that received 1 μL/kg of estradiol. In the groups that received sesame oil and 1 μL/kg of estradiol, the numbers of spermatogonia and Leydig cells were higher than in controls. The combination of sesame oil and 1 μL/kg of estradiol led to improved sperm parameters and chromatin and testicular structure. Conclusion: Based on this study, consumption of sesame oil and a low concentration of estradiol may improve testicular function in older mice.

반복자연유산에서 12번 응고인자 결핍증에 대한 연구 (A Study of Factor XII Deficiency in Recurrent Spontaneous Abortion)

  • 남윤성;김남근;이수만;강명서;오도연;차광렬
    • Clinical and Experimental Reproductive Medicine
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    • 제28권3호
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    • pp.209-213
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    • 2001
  • Objective : To evaluate factor XII deficiency in patients with recurrent spontaneous abortion and its relation to aPTT. Material and Method: Factor XII was analyzed by clotting method. Results: Of 70 patients with recurrent spontaneous abortion, there were 35 cases of factor XII deficiency. Among them, there were only 3 cases of prolonged aPTT. Conclusions: It is still unclear whether factor XII deficiency is related to recurrent spontaneous abortion. Molecular approaches should be used to understand further the causal relationship. But based on this result, in the workup of patients with recurrent spontaneous abortion, factor XII should be included. aPTT is not likely to represent the abnormality of factor XII.

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한국인 다낭성 난포증후군 환자에서 SHP 유전자 변이 분석 (The Analysis of SHP (Small Heterodimer Partner) Gene Mutation in Infertile Patients with Polycystic Ovary Syndrome (PCOS) in Korea)

  • 이수만;최흥식;이숙환;한정희;남보현;곽인평;남윤성;김남근;이교원;전혜선
    • Clinical and Experimental Reproductive Medicine
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    • 제28권2호
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    • pp.141-145
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    • 2001
  • Objective: We inversigated Small Heterodimer Partner (SHP) gene mutation in Korean Polycystic Ovarian Syndrome (PCOS) patients. SHP protein regulates the activity of nuclear receptors which regulate the cellular development and differentiation. Recently, the mutation of SHP gene was found in the obesity and diabetes patients in Japanese group, and suggested that its mutation may involved in pathogenic mechanism of PCOS. Methods: This study was performed in 20 PCOS patients and 20 normal women. The DNAs were extracted from the peripheral bloods, and amplified at each exon (1 and 2) of SHP gene by PCR method. Subsequently, each PCR product was digested with the restriction enzyme indicated below for studying restriction fragment length polymorphism (RFLP). After enzyme digestion, the results of RFLP were compared PCOS patients with control women to find any sequence variation. Results: We examined 9 regions of exon 1 with Msp I, Pvu II, Dde I and 3 regions of exon 2 with Pst I, Dde I. There is no heterozygous or homozygous mutation in patients and control women at these restriction sites. Conclusion: The genetic analysis at our restriction sites in the SHP gene did not show any genetic variation in Korean PCOS patients. Our PCR-RFLP analysis was not covered the entire SHP gene (68 bp/1,006 bp), we need to further analysis of the entire SHP gene.

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Znf45l affects primitive hematopoiesis by regulating transforming growth factor-β signaling

  • Chen, Huijuan;Sun, Huaqin;Tao, Dachang;Yang, Ping;Bian, Shasha;Liu, Yunqiang;Zhang, Sizhong;Ma, Yongxin
    • BMB Reports
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    • 제47권1호
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    • pp.21-26
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    • 2014
  • Znf45l, containing classical $C_2H_2$ domains, is a novel member of Zinc finger proteins in zebrafish. In vertebrates, TGF-${\beta}$ signaling plays a critical role in hematopoiesis. Here, we showed that Znf45l is expressed both maternally and zygotically throughout early development. Znf45l-depleted Zebrafish embryos display shorter tails and necrosis with reduced expression of hematopoietic maker genes. Furthermore, we revealed that znf45l locates downstream of TGF-${\beta}$ ligands and maintains normal level of TGF-${\beta}$ receptor type II phosphorylation. In brief, our results indicate that znf45l affects initial hematopoietic development through regulation of TGF-${\beta}$ signaling.

한국인의 난포자극호르몬수용체 유전자변이에 대한 분석 (Analysis of Follicle Stimulating Hormone Receptor Gene Mutation in Korean)

  • 남윤성;김남근;최명진;박상희;정기화;이숙환;윤태기;차광열
    • Clinical and Experimental Reproductive Medicine
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    • 제25권3호
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    • pp.281-286
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    • 1998
  • Premature ovarian failure is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women younger than 40 years. Many causes of premature ovarian failure were reported, including genetic abnormalities, enzymatic defects, defects in gonadotropin secretion or action, autoimmune disorders, physical and idiopathic causes. Recently, Finnish group reported a point mutation in the follicle stimulating hormone (FSH) receptor gene in premature ovarian failure patients. But it was reported that the group from United States could not find any mutation in FSH receptor gene. So we analysed C566T point mutation of FSH receptor gene using restriction fragment length polymorphism (RFLP) and compared the result between premature ovarian failure patient with idiopathic and known causes. But we did not find 556C${\rightarrow}$T mutation in the FSH receptor gene in both groups. These findings suggest that the missense mutation in the human FSH receptor gene reported in Finnish women with premature ovarian failure is uncommon in Korean women with premature ovarian failure.

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Factors influencing sperm retrieval following testicular sperm extraction in nonobstructive azoospermia patients

  • Salehi, Peyman;Derakhshan-Horeh, Marzieh;Nadeali, Zakiye;Hosseinzadeh, Majid;Sadeghi, Erfan;Izadpanahi, Mohammad Hossein;Salehi, Mansour
    • Clinical and Experimental Reproductive Medicine
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    • 제44권1호
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    • pp.22-27
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    • 2017
  • Objective: Azoospermia owing to testicular disorders is the most severe manifestation of male infertility. The main concern for patients with nonobstructive azoospermia (NOA) is the probability of successful sperm retrieval following testicular sperm extraction (TESE). Therefore, the goal of this study was to determine predictive factors correlated with sperm retrieval. Methods: We assessed the testicular histopathological patterns, the choice of TESE surgical procedure, hormone levels, and chromosomal abnormalities in patients with NOA (n=170). The histopathology specimens were analyzed based on the histopathological patterns of hypospermatogenesis, maturation arrest, and Sertoli cell-only syndrome. Results: The mean rate of sperm retrieval was 48.8%. The rate of sperm retrieval was significantly higher in the hypospermatogenesis group than in the other groups (p<0.001). There was a positive correlation between micro-TESE (vs. conventional TESE) and the sperm retrieval rate (odds ratio, 8.077; p<0.01). A logistic regression model demonstrated that high levels of follicle-stimulating hormone (FSH) and small testicular volume were significantly associated with lower chances of successful sperm retrieval. Conclusion: Some parameters, including testicular histopathology patterns, FSH levels, testicular volume, and method of TESE surgery, may be able to predict the chances of obtaining spermatozoa in patients with NOA. However, despite the efficiency of some predictive models, the hope of retrieving any functioning spermatozoa may be sufficient to disregard predictive factors of the success of intracytoplasmic sperm injection in these patients.

Subfertility Problems Leading to Disposal of Breeding Bulls

  • Khatun, Marzina;Kaur, Simarjeet;Simarjeet, Simarjeet;Mukhopadhyay, C.S.
    • Asian-Australasian Journal of Animal Sciences
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    • 제26권3호
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    • pp.303-308
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    • 2013
  • Subfertility problems are encountered frequently in the cattle and buffalo bulls commercially maintained for semen production in dairy farms and under field conditions for natural insemination. Reports are scarce on the incidence of subfertility in breeding bulls, especially in India. The objective of the present study was to assess the incidence of the male reproductive anomalies leading to disposal of bovine bulls at GADVASU dairy farm, Ludhiana, Punjab (India). Data on frequency of various subfertility and disposal pattern of bulls maintained at the dairy farm, GADVASU, were collected for 12 yrs (1999 to 2010) and compiled from different record registers. Percentage of bulls that produced freezable semen (out of reserved ones) was less in cattle (25.641%) as compared to that of buffalo (30.4%). Various subfertility traits like poor libido and unacceptable seminal profile were found to be the significant reasons (p<0.01) for culling of the breeding bulls. Inadequate sex drive and poor semen quality were the main contributing factors for bull disposal in cattle whereas poor semen freezability was most frequently observed in buffalo bulls. All the male reproductive traits were significantly different (p<0.05) for the periods of birth, except for semen volume, initial motility (IM), age at last semen collection (ALSC) and age at disposal. The ages at first and last semen collection as well as freezing (i.e. AFSC, ALSC and AFSF, ALSF, respectively) and age at disposal (AD) were higher in buffalo. The spermatological parameters and semen production period (SPP) were higher in cattle. The age at first semen donation and breeding period could be reduced by introducing the bulls to training at an early age. The results revealed an increasing trend in individual motility (IM) while semen volume, AFSC, AFSF, AD, FSPP, SPP, ALSC and ALSF showed a decreasing, however, not a definite trend, over the periods. The semen donation traits like, AFSF, of the cattle and buffalo bulls could be predicted from the AFSC, using prediction equation derived in the present study.

Clinical application of genome-wide single nucleotide polymorphism genotyping and karyomapping for preimplantation genetic testing of Charcot-Marie-Tooth disease

  • Kim, Min Jee;Park, Sun Ok;Hong, Ye Seul;Park, Eun A;Lee, Yu Bin;Choi, Byung-Ok;Lee, Kyung-Ah;Yu, Eun Jeong;Kang, Inn Soo
    • Journal of Genetic Medicine
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    • 제19권1호
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    • pp.7-13
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    • 2022
  • Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot-Marie-Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%). Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion: This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

Clinical profile and cytogenetic correlations in females with primary amenorrhea

  • Divya Chandel;Priyanka Sanghavi;Ramtej Verma
    • Clinical and Experimental Reproductive Medicine
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    • 제50권3호
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    • pp.192-199
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    • 2023
  • Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. Results: An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. Conclusion: This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.