간호대학생들의 가계도 작성 정확성과 자신감

손예동,강희선 한국모자보건학회 2015 한국모자보건학회지 Vol.19 No.1

Purpose: The purpose of this study was to explore nursing students' competence in drawing anaccurate family pedigree. Methods: Thirty nine Korean college senior nursing students (average age, 22.3 years; range,21~30 years) participated in this study. Data were collected from September to November 2014. After obtaining permission from the participants, each participants constructed pedigree based ontheir own family history and they were interviewed about their competence in drawing a familypedigree as a group. Each session for group interview was audio-taped and transcribed. The pedigreeswere evaluated for its accuracy. The responses of participants were analyzed using qualitativecontent analysis. Results: The main themes of the sessions were “unequal opportunities in learning about a familypedigree,” “feeling competent in drawing a family pedigree,” “having difficulty with drawing a familypedigree,” and “knowing the family history incompletely.” Although most of the participants perceivedthe importance of family pedigree positively, some of them stated that they are not comfortabledrawing pedigree because they did not know the details and did not have a chance topractice it repeatedly. Moreover, participants hoped to learn more how to draw a family pedigree. Conclusion: The education on family pedigree should be reenforced to increase nursing students'competence in drawing an accurate pedigree for themselves and clients. In addition, the educatorsshould consider individual differences.

Soybean [Glycine max (L.) Merrill]: Importance as A Crop and Pedigree Reconstruction of Korean Varieties

( Chaeyoung Lee ),( Man Soo Choi ),( Hyun Tae Kim ),( Hong Tai Yun ),( Byungwook Lee ),( Young Soo Chung ),( Ryan W. Kim ),( Hong Kyu Choi ) 한국육종학회 2015 Plant Breeding and Biotechnology Vol.3 No.3

Soybean [Glycine max (L.) Merrill] is one of the most important crops in the world and in Korea as well. Since the official start of soybean breeding program in Korea at which a landrace ‘Jangdanbaekmok’ was first released to promote cultivation in 1913, approximately one century has elapsed. Currently, a total of 178 soybean varieties are registered at two representative Korean national institutes, the RDA-Genebank Information Center (http://www.genebank.go.kr) and the Korea Seed & Variety Service (http://www.seed.go.kr). Of these, 155 varieties (87.1%) have been developed through hybridization-based breeding technologies, of which most cultivars (133 varieties, 85.8%) have been released in the last twenty five years. In this review, we attempted to integrate all the information for individual cultivars and to rebuild a breeding pedigree including the entirety of registered Korean soybean varieties. The analysis has resulted in a total of four pedigrees involving 168 cultivars (94.4% out of 178 cultivars), which form the broadest network of pedigrees. Each of pedigrees highlights different key varieties within the context of progenitor networks derived from crossing of various elite parental lines as follows; pedigree I-‘Kwangkyo’, ‘Hwangkeumkong’, ‘Paldalkong’ and ‘Sinpaldalkong2’, pedigree II-‘Baegunkong’, ‘Jangyeobkong’ and ‘Keunolkong’, pedigree III-‘Danyeob’, ‘Pangsa’ and ‘Eunhakong’. These pedigrees also reveal purpose (i.e., desirable traits)-driven development of characteristic soybean varieties during the past century of breeding history in Korea. We expect that the pedigree reconstructed in this study will provide breeders with information useful to design breeding schema and guidance towards the genomics-assisted soybean improvement in the future.

韓國 家系記錄資料의 家系 데이터 모델에 관한 연구 : 藏書閣 소장 자료를 중심으로

李建植(Lee Keon-Sik) 한국학중앙연구원 2006 장서각 Vol.0 No.16

한국의 族譜에는 개인의 간략한 정보와 혈연관계 및 혼인관계 정보가 담겨 있어 역사연구에 귀중한 재료로 쓰일 수 있음이 역사연구에서 천명되어 왔다. 그러나 족보자료에는 얼마 간의 僞作이 있어 역사연구에 족보자료를 활용할 때는 매우 조심스럽게 자료에 접근하고 있다. 그러므로 족보자료를 활용한 연구가 보다 더 활성화 되기 위해서는 족보자료의 정확성이 담보되어야 한다. 족보자료는 매우 방대할 뿐만 아니라 복잡다단한 가족 관계에 기반하므로 족보자료에 나타난 데이터를 정리할 수 있는 컴퓨터 도구가 매우 필요하다. 한국의 각 문중들은 오늘날에도 계속 족보를 증보하여 편찬하고 있다. 족보편찬의 방법은 과거와는 다르게 전자출판 방식으로 바뀌고 있다. 그러나 족보의 전자출판을 위한 족보편찬 프로그램은 동성의 족보에 기반한 가계 데이터 모델 즉 부변(父邊)의 혈연관계 모델을 적용하고 있어 모변(母邊)의 혈연관계를 담고 있는 가계기록 자료를 수용할 수 없다. 內外孫譜의 형식을 가진 조선초기의 族譜, 고려시대와 조선시대의 방목자료, 팔고조도 자료, 팔세보 자료, 호구자료 등의 가계기록 자료에는 부변(父邊)의 혈연관계뿐만 아니라 단편적이나마 모변(母邊)의 혈연관계가 기록되어 있다. 이 같은 모변(母邊)의 혈연관계 자료는 오로지 부변의 혈연관계 정보만을 기록한 동성족보의 정확성을 검증하는 방증자료로 사용될 수 있다. 또 동성족보에 기록된 혼인정보에 의해 두 가문의 혈연정보가 객관적으로 입증될 수 있다. 따라서 두 가문 또는 문중간의 족보에 나타난 혈연정보의 객관성을 비교 검토할 수 있는 도구를 개발하기 위하여 이글에서는 부변(父邊)과 모변(母邊)의 혈연관계를 모두 수용할 수 있는 가계 데이터 모델을 제안하고자 한다. 이글에서 연구된 가계 데이터 모델은 기본적으로 부모-자식의 관계에 기반한다. 이러한 모델에 따라 가족 관계데이터를 구축하면 SQL언어로 다양한 가족관계 데이터를 손쉽게 검출할 수 있다. 부부 사이에 태어난 자식의 수, 남자나 여자의 결혼횟수, 그리고 한 개인으로부터 모든 조상이나 후손을 간단한 SQL로 검출할 수 있어 족보자료의 신빙성을 쉽게 검토할 수 있다. Pedigree books in South Korea contain brief information on individual members such as their family and marriage relationship. No doubt they have been regarded as a treasure trove for historical research. But in that they also carry some fabrications, extra caution should be taken in dealing with such records. This means credibility is the number one factor that determines data in pedigrees can be utilized in historical research, which demands a computer system that can analyze such complicated and abundant information specifying a family tree. Many of South Korea's major clans have published their own pedigree books with updated data. These days, electronics publishing has become more popular but there is one hitch in the new method: the program in the system cannot accommodate records about mother-side family line since it is based on a patriarchal system. Pedigree books published in the era of Koryo and Joseon Dynasty have family records not just about the father side but also about the mother-side family history, albeit to a small extent. Data on both sides will be more effective in verifying a pedigree's credibility. In this sense, this paper proposes a computer data model that canaccommodate records on both lines, which I believe would enhance objectivity of pedigree data as they can be cross-checked against each family line. The model introduced in this paper is based mainly on parent-child relationships. If family data is accumulated under this system, we will be able to extract useful statistics in more convenient ways through structured query language. Such data on how many children were born to a couple and how many times a man or a woman got married can be known more simply, which would guarantee effective use of pedigree records.

제주재래흑돼지와 랜드레이스 F₂ 교배축군의 생체중에 대한 유전체와 가계도 기반의 유전력 및 모체효과 추정

박희복,한상현,이재봉,김상금,강용준,신현숙,신상민,김지향,손준규,백광수,조상래,조인철,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, 한국수정란이식학회 2016 한국동물생명공학회지 Vol.31 No.3

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.

Single nucleotide polymorphism-based analysis of the genetic structure of the Min pig conserved population

Meng Fanbing,Cai Jiancheng,Wang Chunan,Fu Dechang,Di Shengwei,Wang Xibiao,Chang Yang,Xu Chunzhu 아세아·태평양축산학회 2022 Animal Bioscience Vol.35 No.12

Objective: The study aims to uncover the genetic diversity and unique genetic structure of the Min pig conserved population, divide the nucleus conservation population, and construct the molecular pedigree. Methods: We used KPS Porcine Breeding Chip v1 50K for SNP detection of 94 samples (31♂, 63♀) in the Min pig conserved population from Lanxi breeding Farm. Results: The polymorphic marker ratio (PN), the observed heterozygosity (Ho), and the expected heterozygosity (He) were 0.663, 0.335, and 0.330, respectively. The pedigreebased inbreeding coefficients (FPED) was significantly different from those estimated from runs of homozygosity (FROH) and single nucleotide polymorphism (FSNP) based on genome. The Pearson correlation coefficient between FROH and FSNP was significant (p<0.05). The effective population content (Ne) showed a continuously decreasing trend. The rate of decline was the slowest from 200 to 50 generations ago (r = 0.95), then accelerated slightly from 50 to 5 generations ago (1.40<r<1.50) and increased significantly in the last 5 generations (r = 2.6). According to the composition of Chinese lineage, we separated the nucleus conservation population (81 individuals) and the candidate conservation population (13 individuals) of Min pig, then the nucleus conservation population of Min pig was divided into 9 families by genomic information matrix. Conclusion: Our study indicated that the genetic diversity of the Min pig conserved population was inadequate. Due to the introgression of European commercial pig breeds and the unscientific breeding process, it is necessary to construct the molecular pedigree of the nucleus conservation population for the Min pig. Objective: The study aims to uncover the genetic diversity and unique genetic structure of the Min pig conserved population, divide the nucleus conservation population, and construct the molecular pedigree.Methods: We used KPS Porcine Breeding Chip v1 50K for SNP detection of 94 samples (31♂, 63♀) in the Min pig conserved population from Lanxi breeding Farm.Results: The polymorphic marker ratio (PN), the observed heterozygosity (Ho), and the expected heterozygosity (He) were 0.663, 0.335, and 0.330, respectively. The pedigree-based inbreeding coefficients (F_PED) was significantly different from those estimated from runs of homozygosity (F_ROH) and single nucleotide polymorphism (FSNP) based on genome. The Pearson correlation coefficient between F_ROH and F_SNP was significant (p<0.05). The effective population content (Ne) showed a continuously decreasing trend. The rate of decline was the slowest from 200 to 50 generations ago (r = 0.95), then accelerated slightly from 50 to 5 generations ago (1.40<r<1.50) and increased significantly in the last 5 generations (r = 2.6). According to the composition of Chinese lineage, we separated the nucleus conservation population (81 individuals) and the candidate conservation population (13 individuals) of Min pig, then the nucleus conservation population of Min pig was divided into 9 families by genomic information matrix.Conclusion: Our study indicated that the genetic diversity of the Min pig conserved population was inadequate. Due to the introgression of European commercial pig breeds and the unscientific breeding process, it is necessary to construct the molecular pedigree of the nucleus conservation population for the Min pig.

Evaluation of selection program by assessing the genetic diversity and inbreeding effects on Nellore sheep growth through pedigree analysis

Illa Satish Kumar,Gollamoori Gangaraju,Nath Sapna 아세아·태평양축산학회 2020 Animal Bioscience Vol.33 No.9

Objective: The main objectives of the present study were to assess the genetic diversity, population structure and to appraise the efficiency of ongoing selective breeding program in the closed nucleus herd of Nellore sheep through pedigree analysis. Methods: Information utilized in the study was collected from the pedigree records of Livestock Research Station, Palamaner during the period from 1989 to 2016. Genealogical parameters like generation interval, pedigree completeness, inbreeding level, average relatedness among the animals and genetic conservation index were estimated based on gene origin probabilities. Lambs born during 2012 and 2016 were considered as reference population. Two animal models either with the use of Fi or ΔFi as linear co-variables were evaluated to know the effects of inbreeding on the growth traits of Nellore sheep. Results: Average generation interval and realized effective population size for the reference cohort were estimated as 3.38±0.10 and 91.56±1.58, respectively and the average inbreeding coefficient for reference population was 3.32%. Similarly, the effective number of founders, ancestors and founder genome equivalent of the reference population were observed as 47, 37, and 22.48, respectively. Fifty per cent of the genetic variability was explained by 14 influential ancestors in the reference cohort. The ratio fe/fa obtained in the study was 1.21, which is an indicator of bottlenecks in the population. The number of equivalent generations obtained in the study was 4.23 and this estimate suggested the fair depth of the pedigree. Conclusion: Study suggested that the population had decent levels of genetic diversity and a non-significant influence of inbreeding coefficient on growth traits of Nellore lambs. However, small portion of genetic diversity was lost due to a disproportionate contribution of founders and bottlenecks. Hence, breeding strategies which improve the genetic gain, widens the selection process and with optimum levels of inbreeding are recommended for the herd.

Comparison of accuracy of breeding value for cow from three methods in Hanwoo (Korean cattle) population

Hyo Sang Lee,Yeong Kuk Kim,Doo Ho Lee,Dongwon Seo,Dong Jae Lee,ChangHee Do,Phuong Thanh N. Dinh,Waruni Ekanayake,Kil Hwan Lee,Du-Hak Yoon,이승환,Yang Mo Koo 한국축산학회 2023 한국축산학회지 Vol.65 No.4

In Korea, Korea Proven Bulls (KPN) program has been well-developed. Breeding and evaluation of cows are also an essential factor to increase earnings and genetic gain. This study aimed to evaluate the accuracy of cow breeding value by using three methods (pedigree index [PI], pedigree-based best linear unbiased prediction [PBLUP], and genomic-BLUP [GBLUP]). The reference population (n = 16,971) was used to estimate breeding values for 481 females as a test population. The accuracy of GBLUP was 0.63, 0.66, 0.62 and 0.63 for carcass weight (CWT), eye muscle area (EMA), back-fat thickness (BFT), and marbling score (MS), respectively. As for the PBLUP method, accuracy of prediction was 0.43 for CWT, 0.45 for EMA, 0.43 for MS, and 0.44 for BFT. Accuracy of PI method was the lowest (0.28 to 0.29 for carcass traits). The increase by approximate 20% in accuracy of GBLUP method than other methods could be because genomic information may explain Mendelian sampling error that pedigree information cannot detect. Bias can cause reducing accuracy of estimated breeding value (EBV) for selected animals. Regression coefficient between true breeding value (TBV) and GBLUP EBV, PBLUP EBV, and PI EBV were 0.78, 0.625, and 0.35, respectively for CWT. This showed that genomic EBV (GEBV) is less biased than PBLUP and PI EBV in this study. In addition, number of effective chromosome segments (Me) statistic that indicates the independent loci is one of the important factors affecting the accuracy of BLUP. The correlation between Me and the accuracy of GBLUP is related to the genetic relationship between reference and test population. The correlations between Me and accuracy were −0.74 in CWT, −0.75 in EMA, −0.73 in MS, and −0.75 in BF, which were strongly negative. These results proved that the estimation of genetic ability using genomic data is the most effective, and the smaller the Me, the higher the accuracy of EBV.

제주재래흑돼지와 랜드레이스 F2 교배축군의 생체중에 대한 유전체와 가계도 기반의 유전력 및 모체효과 추정

박희복,한상현,이재봉,김상금,강용준,신현숙,신상민,김지향,손준규,백광수,조상래,조인철 한국수정란이식학회 2016 한국동물생명공학회지 Vol.31 No.3

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 F2 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.

Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital

김민현,김덕우,이혜승,방수경,서수현,박경운,오흥권,강성범 대한암학회 2023 Cancer Research and Treatment Vol.55 No.1

Purpose Universal screening for Lynch syndrome (LS) refers to routine tumor testing for microsatellite instability (MSI) among all patients with colorectal cancer (CRC). Despite its widespread adoption, real-world data on the yield is lacking in Korean population. We studied the yield of adopting universal screening for LS in comparison with pedigree-based screening in a tertiary center.Materials and Methods CRC patients from 2007-2018 were reviewed. Family histories were obtained and were evaluated for hereditary nonpolyposis colorectal cancer (HNPCC) using Amsterdam II criteria. Tumor testing for MSI began in 2007 and genetic testing was offered using all available clinicopathologic data. Yield of genetic testing for LS was compared for each approach and step.Results Of the 5,520 patients, tumor testing was performed in 4,701 patients (85.2%) and family histories were obtained from 4,241 patients (76.8%). Hereditary CRC (LS or HNPCC) was present in 69 patients (1.3%). MSI-high was present in 6.9%, and 25 patients had confirmed LS. Genetic testing was performed in 41.2% (47/114) of MSI-high patients, out of which 40.4% (19/47) were diagnosed with LS. There were six additional LS patients found outside of tumor testing. For pedigree-based screening, Amsterdam II criteria diagnosed 55 patients with HNPCC. Fifteen of these patients underwent genetic testing, and 11 (73.3%) were diagnosed with LS. Two patients without prior family history were diagnosed with LS and relied solely on tumor testing results.Conclusion Despite widespread adoption of routine tumor testing for MSI, this is not a fail-safe approach to screen all LS patients. Obtaining a thorough family history in combination with universal screening provides a more comprehensive ‘universal’ screening method for LS.

국내 양돈 상업품종의 유전체 및 혈통 기반 근교수준 비교

박준,이준호 경상대학교 농업생명과학연구원 2024 농업생명과학연구 Vol.58 No.2

본 연구는 국내의 세 품종 돼지에 대하여 혈통자료를 이용한 근교계수와 유전체자료를 이용한 근교계수를 분석하고 비교하기 위하여 수행되었다. 분석에 이용된 혈통자료는 듀록, 랜드레이스 및 요크셔 종에서 각각 137,302두, 228,651두와 657,079두였고, 유전체자료의 경우 Illumina Porcine SNP 60K bead chip V2를 이용하여 수집하였으며 세 품종에서 각각 2,567개, 7,594개 및 12,906개의 자료를 이용하였다. 듀록, 랜드레이스와 요크셔에서 혈통자료를 이용하여 추정된 근교계수는 각각 0.04, 0.02 및 0.02였으며, 유전체자료를 이용하여 추정된 근교계수는 각각 0.184, 0.098 및 0.063이었다. 듀록에서 두 근교계수의 상관이 0.466으로 가장 높게 나타났다. 본 연구를 통하여 혈통완성도는 유전체 정보를 이용하여 보완할 수 있음이 확인되었으며, 유전체 정보는 집단의 유전자원 관리에도 활용도가 높아 국내 양돈산업의 근친도 관리에서 중요한 역할을 할 것으로 기대된다. This study was conducted to analyze and compare pedigree-based inbreeding coefficients ( ┞걸Ι?) and genomic inbreeding coefficients ( ┞꽃 ?) for three domestic pig breeds in Korea. Pedigree data were collected 137,302, 228,651, and 657,079 individuals, Duroc, Landrace, and Yorkshire breeds. After quality contron, genomic information (SNPs) were used 2,567(30,885), 7,594(25,864), and 12,906(21,335) individuals for each breed. ┞걸Ι?were 0.04, 0,02 and 0.02 in Duroc, Landrace and Yorkshire breeds, respectively. ┞꽃 ?were 0.184, 0.098 and 0.063 in each breed. The correlation between the ┞걸Ι?and ┞꽃 ?was highest in the Duroc breed at 0.466. This study has confirmed the potential to complement pedigree completeness using genomic information. Genomic information are expected a significant role not only in the management of genetic resources within populations but also in the crucial task of inbreeding management within the domestic swine industry in Korea.