• Title, Summary, Keyword: Pedigree Analysis

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Genealogical Relationship between Pedigree and Microsatellite Information and Analysis of Genetic Structure of a Highly Inbred Japanese Black Cattle Strain

  • Sasazaki, S.;Honda, T.;Fukushima, M.;Oyama, K.;Mannen, H.;Mukai, F.;Tsuji, S.
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.10
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    • pp.1355-1359
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    • 2004
  • Japanese Black cattle of Hyogo prefecture (Tajima strain) are famous for its ability to produce high-quality meat and have been maintained as a closed system for more than 80 years. In order to assess the usefulness of microsatellite markers in closed cattle populations, and evaluate the genetic structure of the Tajima strain, we analyzed representative dams of the Tajima strain comprised of the substrains Nakadoi and Kinosaki. Genetic variability analyses indicated low genetic diversity in the Tajima strain. In addition, a recent genetic bottleneck, which could be accounted for by the high level of inbreeding, was detected in both substrains. In phylogenetic analyses, relationship coefficients and genetic distances between individuals were calculated using pedigree and microsatellite information. Two phylogenetic trees were constructed from microsatellite and pedigree information using the UPGMA method. Both trees illustrated that most individuals were distinguished clearly on the basis of the two substrains, although in the microsatellite tree some individuals appeared in clusters of different substrains. Comparing the two phylogenetic trees revealed good consistency between the microsatellite analysis tree and the pedigree information. The correlation coefficient between genetic distances derived from microsatellite and pedigree information was 0.686 with a high significance level (p<0.001). These results indicated that microsatellite information may provide data substantially equivalent to pedigree information even in unusually inbred herds of cattle, and suggested that microsatellite markers may be useful in revealing genetic structure without accurate or complete pedigree nformation. Japanese Black cattle of Hyogo prefecture (Tajima strain) are famous for its ability to produce high-quality meat and have been maintained as a closed system for more than 80 years. In order to assess the usefulness of microsatellite markers in closed cattle populations, and evaluate the genetic structure of the Tajima strain, we analyzed representative dams of the Tajima strain comprised of the substrains Nakadoi and Kinosaki. Genetic variability analyses indicated low genetic diversity in the Tajima strain. In addition, a recent genetic bottleneck, which could be accounted for by the high level of inbreeding, was detected in both substrains. In phylogenetic analyses, relationship coefficients and genetic distances between individuals were calculated using pedigree and microsatellite information. Two phylogenetic trees were constructed from microsatellite and pedigree information using the UPGMA method. Both trees illustrated that most individuals were distinguished clearly on the basis of the two substrains, although in the microsatellite tree some individuals appeared in clusters of different substrains. Comparing the two phylogenetic trees revealed good consistency between the microsatellite analysis tree and the pedigree information. The correlation coefficient between genetic distances derived from microsatellite and pedigree information was 0.686 with a high significance level (p<0.001). These results indicated that microsatellite information may provide data substantially equivalent to pedigree information even in unusually inbred herds of cattle, and suggested that microsatellite markers may be useful in revealing genetic structure without accurate or complete pedigree information.

Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study

  • Rekha, Santhanam;Ramalingam, Ravi;Parani, Madasamy
    • Journal of Audiology & Otology
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    • v.22 no.4
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    • pp.223-228
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    • 2018
  • Background and Objectives: To analyse the audiometric profile and the pedigree of a large family with otosclerosis to understand the inheritance pattern and its implication in clinical management of the disease. Subjects and Methods: Pedigree analysis was performed on the basis of family history and audiometric tests. Pure tone audiometry, tympanometry, and acoustic reflexes were evaluated for the family members. Audiometric analysis was also carried out for the individuals who have already underwent corrective surgery at the time of study. Results: Out of 112 family members, 17 were affected individuals, and 11 of them were surgically confirmed. Hearing loss (HL) started unilaterally and progressed to bilateral form. Otosclerosis was presented in early 20's in the first and second generations but it was delayed to mid-late 30's in the fourth generation. An affected female was diagnosed with otosclerosis during her pregnancy. Though the disease was familial, a mother of four affected offspring in this family did not develop otosclerosis until she died at the age of 84. Conclusions: The five-generation family, which was analysed in the present study, exhibited autosomal dominant inheritance of otosclerosis with reduced penetrance. Bilateral HL and pregnancy-aggravated otosclerosis were observed in this family. It was found for the first time that the age of onset of the disease delayed in the successive generations. The current study indicated the importance of detailed pedigree analysis for better clinical management of otosclerosis.

Pedigree Analysis of 17 High Quality Korean Rice Cultivars Using Web Database Systems

  • Yi, Gi-Hwan;Park, Dong-Soo;Chung, Eun-Sook;Song, Song-Yi;Jeon, Nam-Soo;Nam, Min-Hee;Kim, Doh-Hoon;Han, Chang-Deok;Eun, Moo-Young;Ku, Yeon-Chung
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.51 no.6
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    • pp.554-564
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    • 2006
  • It is important to understand pedigree of rice cultivars commonly used for breeding. In this paper, pedigree tables for tracking the pedigree of 17 representative rice cultivars recommended by Rural development Adminstration (RDA) were completed and analyzed using two kinds of web database system; 'IRIS' and 'RRDB'. Seven cultivars, namely, 'Sangmibyeo', 'Ilpumbyeo', 'Saegewhabyeo', 'Surabyeo', 'Shindongjinbyeo', 'Ilmibyeo' and 'Jungwhabyeo' had 'Koshihikari' on the pedigree of their ancestor. Besides 'Koshihikari', the most feguently used ancestral germplasms among the high quality rice cultivars were 'Fujisaka 5', 'Kameno o' and 'Asahi', 'Fujisaka 5' was used as ancestral parent in 12 out of 17 cultivars. Interestingly, 'Kameno o' was used in pedigree of 16 out of 17 high quality varieties and 'Asahi' was used in the ancestral pedigree of all 17 varieties. 'Hwayeongbyeo' was used as one of parent in the breeding of 'Dongjin 1', 'Hwabongbyeo', 'Saegewhabyeo' and 'Junambyeo'. 'Ilpumbyeo' was used in the breeding pathway of 'Junambyeo' and 'Saegewhabyeo', 'Mangeumbyeo' itself was not enlisted as one of high quality rice cultivars, but was used as a breeding parent of three high quality varieties, namely, 'Saegewhabyeo', 'Hwabongbyeo' and 'Nampyeongbyeo'. Incorporated with evaluation data, pedigree will provide a valuable chance to genealogical tracking of agronomic traits such as disease resistance, grain quality and etc.

Study of Genetic Inheritance in Osmidrosis Patients Based on Pedigree Analysis (가계도 분석을 통한 액취증 유전 경향에 대한 연구)

  • Lee, Jung Woo;Kim, Jeong Tae;Kim, Chang Yeon
    • Archives of Plastic Surgery
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    • v.35 no.5
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    • pp.565-568
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    • 2008
  • Purpose: Bacterial degeneration of sweat and increased secretion of over developed apocrine sweat gland are known causes of osmidrosis. In addition, genetic inheritance must be another important cause, because there are high incidence rates of osmidrosis in familial members. But the research about genetic inheritance has been overlooked. For this reason we studied genetic inheritance in osmidrosis patients based on pedigree analysis. Methods: We have evaluated pedigree of 52 patients who have diagnosed and treated in our hospital from January 2003 to August 2007. For making pedigrees, we have evaluated 3 generations of affected lineage from osmidrosis patients. Family members having uncertain information or those who are before puberty are excluded. In pedigree analysis, inheritance rate and inheritance pattern from parents, prevalence rate in generations and sexual prevalence are evaluated. Results: In this study, we divided pedigrees into 3 different groups according to inheritance pattern. Group A is genetically unrelated pattern with no prevalence between familial members in 7 families. Group B is weakly expressed pattern with 17 families there are genetically related but no genetic patterns are founded. In group B inheritance rate is 34% and incidence rate is 21% in 2nd generation and 22% in 3rd generation. Group C is autosomal dominant pattern with 31 families. In group C, there are no differences in sexual prevalence. Incidence rate is 43% in 2nd generation and 49% in 3rd generation. Conclusion: In this study, we have studied pedigrees of 52 families of osmidrosis patients. 60% of the pedigrees shows autosomal dominant pattern, 33% shows genetically related but no definite autosomal dominant pattern and 7% shows genetically unrelated pattern. In Conclusion, This study can be basic data for future gene analysis study of osmidrosis.

Evaluation of Inbreeding and Genetic Variability of Five Pig Breeds in Czech Republic

  • Krupa, Emil;Zakova, E.;Krupova, Z.
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.1
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    • pp.25-36
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    • 2015
  • The complex analysis of the pedigree records of Czech Landrace (CLA), Czech Large White-dam line (CLWd), Czech Large White-sire line (CLWs), Duroc (DC), and Pietrain (PN) was performed to determine trends of genetic diversity (GD), and to find the main sources of the GD loss. The total size of the pedigree was 132,365, 391,151, 32,913, 13,299, and 7,160 animals in CLA, CLWd, CLWs, DC, and PN, respectively. Animals born in the years 2011 through 2013 were assumed as the reference population. The average pedigree completeness index for one generation back was 95.9%, 97.4%, 91.2%, 89.8%, and 94.2% for appropriate breeds. Number of ancestors explaining 100% of gene pool was 186, 373, 125, 157, and 37 in CLA, CLWd, CLWs, DC, and PN, respectively. The relative proportion of inbred animals (58%, 58%, 54%, 47%, and 25%), the average inbreeding (2.7%, 1.4%, 2.5%, 3.6%, and 1.3%) and the average co-ancestry (3.1%, 1.6%, 3.3%, 4.2%, and 3.3%) were found over the past decade in analysed breeds. The expected inbreeding under random mating increased during the last 10 years in CLWs and PN and varied from 1.27% to 3.2%. The effective population size computed on the basis of inbreeding was 76, 74, 50, 35, and 83 in 2012 in CLA, CLWd, CLWs, DC, and PN, respectively. The shortest generation interval (1.45) was observed for CLWd in sire to son selection pathway. The longest generation interval obtained PN (1.95) in sire to daughter pathway. The average relative GD loss within last generation interval was 7.05%, 4.70%, 9.81%, 7.47%, and 10.46%, respectively. The relative proportion of GD loss due to genetic drift on total GD loss was 85.04%, 84.51%, 89.46%, 86.19%, and 83.68% in CLA, CLWd, CLWs, DC, and PN, respectively. All breeds were characterized by a high proportion of inbred animals, but the average inbreeding was low. The most vulnerable breeds to loss of GD are DC and PN. Therefore, a breeding program should be more oriented to prevent the increase of GD loss in these breeds.

Analysis of Microsatellite DNA Polymorphisms for Pedigree Verification in Kyungju Dog(Dongkyung-i). (경주개(동경이)의 혈통확인을 위한 microsatellite DNA 다형성 분석)

  • Lee, Eun-Woo;Choi, Seog-Gyu;Cho, Gil-Jae
    • Journal of Life Science
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    • v.18 no.6
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    • pp.902-906
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    • 2008
  • In this study, we analyzed the microsatellite DNA poly-morphisms for pedigree verification in Kyungju dog (Dongkyung-i) which is one of the Korean breed dogs. A total of 51 Dongkyung-i samples were genotyped using 8 microsatellite markers. The number of alleles observed at single locus ranged from 4 to 12, with average number of alleles per locus of 8.5. The expected heterozygosity and polymorphic information contents (PIC) values of the 8 microsatellite loci were $0.6162{\sim}0.8746$ (mean 0.7587) and $0.5461{\sim}0.8512$ (mean 0.7167), respectively. Of the 8 markers, PEZ3, PEZ6, PEZ12 and FHC2054 loci had relatively high PIC values (>0.7) in Dongkyung-i. Pedigree verification of Dongkyung-i was analyzed based on alleles observed. The results of the parentage testing were noted significant differences compared with breeders. These results show basic information of conservation and research in Dongkyung-i, and further studies of genetic pedigree in Dongkyung-i will be needed.

SNP-based and pedigree-based estimation of heritability and maternal effect for body weight traits in an F2 intercross between Landrace and Jeju native black pigs (제주재래흑돼지와 랜드레이스 F2 교배축군의 생체중에 대한 유전체와 가계도 기반의 유전력 및 모체효과 추정)

  • Park, Hee-Bok;Han, Sang-Hyun;Lee, Jae-Bong;Kim, Sang-Geum;Kang, Yong-Jun;Shin, Hyun-Sook;Shin, Sang-Min;Kim, Ji-Hyang;Son, Jun-Kyu;Baek, Kwang-Soo;Cho, Sang-Rae;Cho, In-Cheol
    • Journal of Embryo Transfer
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    • v.31 no.3
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    • pp.243-247
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    • 2016
  • Growth traits, such as body weight, directly influence productivity and economic efficiency in the swine industry. In this study, we estimate heritability for body weight traits usinginformation from pedigree and genome-wide single nucleotide polymorphism (SNP) chip data. Four body weight phenotypes were measured in 1,105 $F_2$ progeny from an intercross between Landrace and Jeju native black pigs. All experimental animals were subjected to genotypic analysis using PorcineSNP60K BeadChip platform, and 39,992 autosomal SNP markers filtered by quality control criteria were used to construct genomic relationship matrix for heritability estimation. Restricted maximum likelihood estimates of heritability were obtained using both genomic- and pedigree- relationship matrix in a linear mixed model. The heritability estimates using SNP information were smaller (0.36-0.55) than those which were estimated using pedigree information (0.62-0.97). To investigate effect of common environment, such as maternal effect, on heritability estimation, we included maternal effect as an additional random effect term in the linear mixed model analysis. We detected substantial proportions of phenotypic variance components were explained by maternal effect. And the heritability estimates using both pedigree and SNP information were decreased. Therefore, heritability estimates must be interpreted cautiously when there are obvious common environmental variance components.

Influence of Amount of Pedigree Information and Parental Misidentification of Progeny on Estimates of Genetic Parameters in Jeju Race Horses (제주마 집단의 혈연 정보량과 정보 오류가 유전 모수 추정치에 미치는 영향)

  • Kim, Nam-Young;Lee, Sung-Soo;Yang, Young-Hoon
    • Journal of Embryo Transfer
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    • v.29 no.3
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    • pp.289-296
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    • 2014
  • The pedigree information and race records of 1,000 m finishing time of Jeju race horses at KRA were used to study the effect of amount of pedigree information and parental misidentification on the estimates of genetic parameters. The modified data sets were made at the range of 2.5 to 25% parental misidentifications or loss of parental information of individuals with an increment of 2.5 percent. For each incremental level, 20 randomly replicated data sets were obtained and analyzed by single-trait analysis with a DF-REML(AI) algorithm. As the rate of misidentification increased or the amount of pedigree information decreased, the estimates of fraction of additive genetics variance component gradually decreased almost linearly (p<0.05), while the estimated fractions of error variance and permanent environmental variance components gradually increased for the finishing time. Regression coefficients of the percentage amount of both parents' information loss and incorrect pedigree information on additive genetic variances were -0.079 and -0.114, respectively (p<0.01). The estimate of heritability decreased by 0.92% for one percent loss of both parents' information and 1.39% for one percent increase of both parental misidentifications of progeny (p<0.01). For the consideration of probable incorrect and missing parent information of progeny in this early population of Jeju horses, the estimates of additive genetic parameters would be biased downward about ten percent. This results indicate that the amount of pedigree information loss and misidentification of progeny would severely affect estimates of genetic parameters and would reduce genetic gains for selection in Jeju horse population.

A Study on the Genetic Inheritance of Ankyloglossia Based on Pedigree Analysis

  • Han, Soo-Hyung;Kim, Min-Cheol;Choi, Yun-Seok;Lim, Jin-Soo;Han, Ki-Taik
    • Archives of Plastic Surgery
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    • v.39 no.4
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    • pp.329-332
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    • 2012
  • Background Ankyloglossia or tongue-tie is a congenital anomaly characterized by an abnormally short lingual frenum. Its prevalence in the newborn population is approximately 4%. Its mode of inheritance has been studied in some articles, but no conclusion has been established. Also, no relevant report has been published in Korea. This study was conducted to elucidate the genetic inheritance of ankyloglossia via pedigree analysis. Methods In this study, 149 patients with no other congenital anomaly who underwent frenuloplasty between March 2001 and March 2010 were studied. Pedigrees were made via pre- or post-operative history taking, and patients with uncertain histories were excluded. In the patient group that showed a hereditary nature, the male-to-female ratio, inheritance rate, and pattern of inheritance were investigated. Results One hundred (67.11%) of the patients were male and 49 (32.89%) were female (male-female ratio=2.04:1). Ninety-one (61.07%) patients reported no other relative with ankyloglossia, and 58 (38.93%) patients had a relative with this disease. The inheritance rate was 20.69% in the 58 cases with a hereditary nature. In the group with no family history of ankyloglossia, the male-female ratio was 3.79:1, which significantly differed from that of the group with a family history of ankyloglossia. X-chromosome mediated inheritance and variation in the gene expression was revealed in the pedigree drawn for the groups with hereditary ankyloglossia. Conclusions Ankyloglossia has a significant hereditary nature. Our data suggest X-linked inheritance. This study with 149 patients, the first in Korea, showed X-linked inheritance in patients with a sole anomaly.

Genetic Structure and Composition of Genetic Diversity in the Kouchi Sub-breed of the Japanese Brown Cattle Population

  • Honda, Takeshi;Fujii, Toshihide;Mukai, Fumio
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.11
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    • pp.1631-1635
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    • 2007
  • Japanese Brown cattle, one of the four domestic beef breeds in Japan, are suffering from numerical reduction due to economic pressure from profitable breeds. In this study, all the reproductive cows in the Kouchi sub-breed of the Japanese Brown cattle that were alive in July 2005 were investigated by pedigree analysis to clarify genetic structure and composition of genetic variability. In addition, genetically important individuals for the maintenance of genetic variability of the sub-breed were also identified through the core set method. The number of cows analyzed was 1,349. Their pedigrees were traced back to ancestors born around 1940, and pedigree records of 13,157 animals were used for the analysis. Principal component analysis was performed on the relationship matrix of the cows, and their factor loadings were plotted on a three-dimensional diagram. According to their spatial positions in the diagram, all the cows were subdivided into five genetically distinctive subpopulations of 131 to 437 animals. Genetic diversity of the whole sub-breed, which is estimated to be 0.901, was decomposed into 0.856 and 0.045 of within-subpopulation and between-subpopulation components. Recalculation of genetic diversity after removal of one or several subpopulations from the five subpopulations suggested that three of them were genetically important for the maintenance of genetic variability of the sub-breed. Applying the core set method to all the cows, maximum attainable genetic diversity was estimated to be 0.949, and optimal genetic contributions assigned to each cow supported the previous results indicating relative importance of the three subpopulations as useful genetic materials.