• Clinical and Experimental Reproductive Medicine
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• 제38권3호
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• pp.126-134
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• 2011

Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can increase diagnostic accuracy and reduce allele dropout. It is cost-effective and currently plays an important role. Whole genome amplification permits subsequent individual detection of multiple gene loci and screening all 23 pairs of chromosomes. For PGD of chromosomal translocation, fluorescence $in-situ$ hybridization (FISH) is traditionally used, but with technical difficulty. Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. Single nucleotide polymorphisms array with haplotyping can further distinguish between normal chromosomes and balanced translocation. PGD may shorten time to conceive and reduce miscarriage for patients with chromosomal translocation. PGD has a potential value for mitochondrial diseases. Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. Preimplantation genetic screening (PGS) using limited FISH probes in the cleavage-stage embryo did not increase live birth rates for patients with advanced maternal age, unexplained recurrent abortions, and repeated implantation failure. Polar body and blastocyst biopsy may circumvent the problem of mosaicism. PGS using blastocyst biopsy and array CGH is encouraging and merit further studies. Cryopreservation of biopsied blastocysts instead of fresh transfer permits sufficient time for transportation and genetic analysis. Cryopreservation of embryos may avoid ovarian hyperstimulation syndrome and possible suboptimal endometrium.

• Journal of Animal Science and Technology
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• 제62권6호
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• pp.777-789
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• 2020

Intense artificial selection has been imposed to Luzhong mutton sheep population in the past years. Improvements on growth and reproductive performance are two breeding goals in the present herd. Although some progresses were phenotypically observed possibly due to inbreeding induced by strong selection in terms of these traits, the genomic evaluation was poorly understood. Therefore, a high-density SNP array was used to characterize the pattern of runs of homozygosity (ROH), estimate inbreeding and inbreeding depressions on early growth performance and litter size based upon ROH, and scan positive selection signatures of recent population. Consequently, a low inbreeding level was observed which had negative effects on litter size, but not on early growth performance. And 160 genes were under selection, of which some were reported to be linked to several traits of sheep including body weight, litter size, carcass and meat quality, milk yield and composition, fiber quality and health, and the top genes were associated with growth (growth hormone [GH]- growth hormone receptor [GHR]- Insulin-like growth factor 1 [IGF1] axis) and litter size (bone morphogenic proteins [BMPs]-associated). The effectiveness of previous breeding measures was highlighted, but purging selection was proposed to alleviate the inbreeding depression on litter size, providing some genomic insights to breeding management of Luzhong mutton sheep.

• Asian-Australasian Journal of Animal Sciences
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• 제30권11호
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• pp.1550-1556
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• 2017

Objective: This study estimated the genetic parameters for productive and reproductive traits. Methods: The data included production and reproduction records of animals that have calved between 1979 and 2013. The genetic parameters were estimated using multivariate mixed models (DMU) package, fitting univariate and multivariate mixed models with average information restricted maximum likelihood algorithm. Results: The estimates of heritability for milk production traits from the first three lactation records were $0.03{\pm}0.03$ for lactation length (LL), $0.17{\pm}0.04$ for lactation milk yield (LMY), and $0.15{\pm}0.04$ for 305 days milk yield (305-d MY). For reproductive traits the heritability estimates were, $0.09{\pm}0.03$ for days open (DO), $0.11{\pm}0.04$ for calving interval (CI), and $0.47{\pm}0.06$ for age at first calving (AFC). The repeatability estimates for production traits were $0.12{\pm}0.02$, for LL, $0.39{\pm}0.02$ for LMY, and $0.25{\pm}0.02$ for 305-d MY. For reproductive traits the estimates of repeatability were $0.19{\pm}0.02$ for DO, and to $0.23{\pm}0.02$ for CI. The phenotypic correlations between production and reproduction traits ranged from $0.08{\pm}0.04$ for LL and AFC to $0.42{\pm}0.02$ for LL and DO. The genetic correlation among production traits were generally high (>0.7) and between reproductive traits the estimates ranged from $0.06{\pm}0.13$ for AFC and DO to $0.99{\pm}0.01$ between CI and DO. Genetic correlations of productive traits with reproductive traits were ranged from -0.02 to 0.99. Conclusion: The high heritability estimates observed for AFC indicated that reasonable genetic improvement for this trait might be possible through selection. The $h^2$ and r estimates for reproductive traits were slightly different from single versus multi-trait analyses of reproductive traits with production traits. As single-trait method is biased due to selection on milk yield, a multi-trait evaluation of fertility with milk yield is recommended.

• Clinical and Experimental Reproductive Medicine
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• 제49권3호
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• pp.210-214
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• 2022

Objective: Platelet-rich plasma (PRP) therapy has received a considerable attention as an adjunct to fertility treatments, especially in women with very low ovarian reserve and premature ovarian insufficiency. Although recent studies have demonstrated that PRP led to improvements in folliculogenesis and biomarkers of ovarian reserve, the effect of intraovarian PRP administration on embryo genetics has not been studied. Methods: We report a pilot study of patients who had preimplantation genetic testing for aneuploidy (PGT-A) before and then within 3 months following PRP administration. Twelve infertile women with at least one prior failed in vitro fertilization (IVF) cycle underwent ovarian stimulation (cycle 1) with a gentle stimulation protocol and PGT-A performed at the blastocyst stage. Following cycle 1, autologous intraovarian PRP administration was performed. Within 3 months following PRP administration, the patients underwent cycle 2 and produced blastocysts for PGT-A. The percentage of euploid embryos between both cycles was compared. Results: The mean age of all participants was 40.08±1.46 years, and their mean body mass index was 26.18±1.18 kg/m². The number of good-quality embryos formed at the blastocyst stage was similar between cycle 1 and cycle 2 (3.08±0.88 vs. 2.17±0.49, respectively; p=0.11). Among all patients in cycle 1, 3 of 37 embryos were euploid (8.11%) while in cycle 2, 11 out of 28 embryos were euploid (39.28%, p=0.002). Three clinical pregnancies were noted among this patient group. Conclusion: This novel study is the first to present an improvement in the embryo euploidy rate following intraovarian PRP application in infertile women with prior failed IVF cycles. The growth factors present in PRP may exhibit a local paracrine effect that could improve meiotic aberrations in human oocytes and thus improve euploidy rates. Whether PRP improves live birth rates and lowers miscarriage rates remains to be determined in large trials.

• Clinical and Experimental Reproductive Medicine
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• 제38권3호
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• pp.168-173
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• 2011

Objective: To examine the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and hyperhomocysteinemia in women with unexplained recurrent miscarriages (RM) and to investigate the association between MTHFR genotype variants and alloimmune activation, proportion of peripheral blood natural killer (pbNK) cells. Methods: A total of 39 patients with a history of two or more unexplained miscarriages were recruited to this study. The controls were women who had a live birth without a history of RM (n=50). The proportion of pbNK cells was measured by flow cytometry. Plasma homocysteine levels and the incidence of the MTHFR variant of the RM and control groups were compared. The proportion of pbNK cells was compared to the MTHFR variants in the RM group. Results: No differences were found between the two groups' mean plasma homocysteine levels ($7.6{\pm}1.5{\mu}mol$/L vs. $7.1{\pm}2.1{\mu}mol$/L) or incidence of the MTHFR genotype variant (CC, 35% vs. 33%; CT, 40% vs. 53%; and TT, 25% vs. 14%). In the RM group, individuals with the TT variant ($7.7{\pm}1.1{\mu}mol$/L) had higher homocysteine levels than those with the CC and CT variants ($7.4{\pm}1.9{\mu}mol$/L and $7.4{\pm}1.2{\mu}mol$/L) and those with the CT variant ($19.2{\pm}8.1%$) had a higher proportion of CD3-/CD56+ pbNK cells than those with the CC and TT variants ($17.7{\pm}6.6%$ and $17.9{\pm}7.0%$), but the results of both comparisons were statistically insignificant. Conclusion: These preliminary results show no difference in plasma homocysteine levels between the RM and control groups or among MTHFR genotype variants in the RM group, which may suggest that the plasma homocysteine level is difficult to use as a predictive marker of RM in the Korean population. A study of a larger number of patients is needed.

• Asian-Australasian Journal of Animal Sciences
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• 제21권8호
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• pp.1109-1115
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• 2008

The reproduction component traits are important components of sow efficiency. The objective of this study was to evaluate the phenotypic and genetic parameters of four reproduction component traits (age at puberty (AP), preweaning number dead (PND), weaning to service interval (WSI), and intra-individual SD in litter size (IISDLS)) of sows in two Chinese indigenous pig breeds. Available reproductive records including 22,591 piglets born from 2,054 litters by 574 Jiangquhai sows and 464 Meishan sows were used in this investigation. A set of mixed models and restricted maximum likelihood methodology were used for the multiple trait analyses of these traits. The results showed that the estimates of heritabilities (${\pm}$standard error) for AP, PND, WSI and IISDLS were $0.40{\pm}0.05$, $0.06{\pm}0.03$, $0.20{\pm}0.02$ and 0.09{\pm}0.03 in Jiangquhai sows, and $0.35{\pm}0.06$, $0.05{\pm}0.03$, $0.18{\pm}0.03$ and $0.10{\pm}0.04$ in Meishan sows, respectively. There was moderate genetic correlation between AP and WSI, while there were low genetic correlations between the other pairwise traits. The genetic correlations were positive for most of the pairwise traits, except for the one between AP and IISDLS. The results indicated that all traits except for AP were difficult to make genetic improvement by traditional selection methods due to low heritabilities and the favorable improvement of AP might result in unfavorable changes of IISDLS due to the trend of genetic antagonism.

• Asian-Australasian Journal of Animal Sciences
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• 제12권7호
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• pp.1015-1018
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• 1999

Single trait mixed models have been dominantly utilized for genetic evaluation of the reproductive traits in swine. However employing multiple trait approach may lead to more accurate genetic evaluations. For 5 litter size and litter weight traits of Danish Landrace, genetic parameters were estimated with a multiple trait mixed model. The heritability estimates were 0.02, 0.03, 0.03, 0.05, and 0.07, respectively for litter size at birth, litter size born alive, litter weight at birth, litter size at weaning, and litter weight at weaning. Negative genetic correlations were all positive. The litter weight at birth showed genetic antagonism with litter size born alive (-0.65) and litter size at weaning (-0.31), but positive with litter size at birth (0.47) and litter weight at weaning (0.31). The estimates of environmental correlations were larger than their corresponding genetic correlation estimates except for those between litter weight at birth and the other four traits. This study recommends simultaneous selection for two or more traits with multivariate mixed models in order to improve overall economic response.

• Fisheries and Aquatic Sciences
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• 제7권1호
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• pp.39-45
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• 2004

Six demographic parameters including life span (LS), maturation time (MT), net reproduction rate (Ro), mean generation length (G), innate capacity for increase $(r_m)$ and finite rate of increase $(\gamma)$ were estimated in the rotifer (Brachionus rotundiformis) cultured at three salinities of 5, 20 and 34 PSU and under a constant temperature of $28^{\circ}C$. The maximum life spans at salinities of 5, 20 and 34 PSU were 17, 12 and 13 days, respectively. The shortest maturation time (24 hr) was recorded at 5 PSU, and the rotifer at 20 PSU showed a most delayed maturation (192 hr). The maximum reproduction rate was 42 offspring per female in rotifer cultured at 5 PSU, while the longest generation length (8 days) was observed at 20 PSU. Maximum and minimum values of $r_m$ (1.56 and 0.46 individual per day) and $(\gamma)$ (6.67 and 1.70 individuals per day) were calculated at 5 and 34 PSU, respectively. Salinity also showed strong effect on correlation of the demographic traits examined. ANOVA revealed significant differences (P<0.05) between demographic parameters of the rotifer at the three salinity condition. Considering the higher values of life span, innate capacity and finite rate of increase, and shortest maturation time at 5 PSU, the rotifer we examined had a higher reproductive potential and longer life span at 5 PSU rather than at 20 or 34 PSU.

• Animal Bioscience
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• 제35권10호
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• pp.1479-1488
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• 2022

Objective: This work was to determine coat inheritance and evaluate production performance for crossbred pigs from Berkshire×Chenghua (BC) compared with Chinese indigenous Chenghua (CH) pigs. Methods: The coat color phenotypes were recorded for more than 16,000 pigs, and the genotypes of melanocortin 1 receptor (MCIR) gene were identified by sequencing. The reproductive performance of 927 crossbred BC F4 gilts and 320 purebred CH gilts was recorded. Sixty pigs of each breed were randomly selected at approximately 60 days of age to determine growth performance during fattening period, which lasted for 150 days for BC pigs and 240 days for CH pigs. At the end of the fattening period, 30 pigs of each breed were slaughtered to determine carcass composition and meat quality. Results: The coat color of BC pigs exhibits a "dominant black" hereditary pattern, and all piglets derived from boars or sows genotyped E^D1 E^D1 homozygous for MC1R gene showed a uniform black coat phenotype. The BC F4 gilts displayed a good reproductive performance, showing a higher litter and tear size and were heavier at farrowing litter and at weaning litter than the CH gilts, but they reached puberty later than the CH gilts. BC F4 pigs exhibited improved growth and carcass characteristics with a higher average daily live weight gain, lower feed-to-gain ratio, and higher carcass lean meat rate than CH pigs. Like CH pigs, BC F4 pigs produced superior meat-quality characteristics, showing ideal pH and meat-color values, high intramuscular fat content and water-holding capacity, and acceptable muscle-fiber parameters. C18:1, C16:0, C18:0, and C18:2 were the main fatty acids in M. longissimus lumborum in the two breeds, and a remarkably high polyunsaturated/saturated fatty acid ratio of ~0.39 was observed in the BC F4 pigs. Conclusion: The BC F4 pigs exhibit a uniform black coat pattern and acceptable total production performance.

• Journal of Genetic Medicine
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• 제6권2호
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• pp.131-145
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• 2009

착상전 유전진단은 유전질환이 이환될 가능성이 있는 부부들을 대상으로 산전진단을 통한 임신중절의 위험성 없이 정상적인 아이를 가질 수 있게 도와주는 보조생식술의 한 방법으로 확립되었다. 단일 할구를 대상으로 하는 분자생물학 및 분자생물학적 기술의 발전은 착상전 유전진단의 정확성을 높은 수준에 이르게 하였고 whole genome amplification 방법을 이용함으로써 단일세포로부터 여러 가지 다양한 진단을 동시에 수행 가능케 하였으며 단일 유전자 질환에 대한 착상전 유전진단에서의 오진을 감소시킬 수 있었다. 따라서 PCR을 이용한 단일 유전자 질환에 대한 착상전 유전진단의 적용가능 유전질환은 더욱 확대될 것이며 건강한 아이의 출산을 원하는 더 많은 부부들에게 기회를 제공해 줄 것이다. 본 종설에서는 현재 단일유전자 질환에 대한 착상전 유전진단을 시행하는 대부분의 센터에서 시행하고 있는 생검 방법과 multiplex PCR, PCR 후 진단 방법, 그리고 multiple displacement amplification 등의 분자생물학적 방법과 단일 세포 분석에서의 문제점 등을 포함한 단일 유전자 질환에 대한 착상전 유전진단 전반에 관하여 논의할 것이다.