Confirmation of Y haplogroup tree topologies with newly suggested Y-SNPs for the C2, O2b and O3a subhaplogroups

Kwon, S.Y.,Lee, H.Y.,Lee, E.Y.,Yang, W.I.,Shin, K.J. Elsevier Science 2015 FORENSIC SCIENCE INTERNATIONAL GENETICS Vol.19 No.-

Y chromosome single nucleotide polymorphisms (Y-SNPs) are useful markers for reconstructing male lineages through hierarchically arranged allelic sets known as haplogroups, and are thereby widely used in the fields such as human evolution, anthropology and forensic genetics. The Y haplogroup tree was recently revised with newly suggested Y-SNP markers for designation of several subgroups of haplogroups C2, O2b and O3a, which are predominant in Koreans. Therefore, herein we analyzed these newly suggested Y-SNPs in 545 unrelated Korean males who belong to the haplogroups C2, O2b or O3a, and investigated the reconstructed topology of the Y haplogroup tree. We were able to confirm that markers L1373, Z1338/JST002613-27, Z1300, CTS2657, Z8440 and F845 define the C2 subhaplogroups, C2b, C2e, C2e1, C2e1a, C2e1b and C2e2, respectively, and that markers F3356, L682, F11, F238/F449 and F444 define the O subhaplogroups O2b1, O2b1b, O3a1c1, O3a1c2 and O3a2c1c, respectively. Among six C2 subhaplogroups (C2b, C2e, C2e1*, C2e1a, C2e1b and C2e2), the C2e haplogroup and its subhaplogroups were found to be predominant, and among the four O2b subhaplogroups (O2b*, O2b1*, O2b1a and O2b1b), O2b1b was most frequently observed. Among the O3a subhaplogroups, O3a2c1 was predominant and it was further divided into the subhaplogroups O3a2c1a and O3a2c1c with a newly suggested marker. However, the JST002613-27 marker, which had been known to define the haplogroup C2f, was found to be an ancestral marker of the C2e haplogroup, as is the Z1338 marker. Also, the M312 marker for the O2b1 haplogroup designation was replaced by F3356, because all of the O2b1 haplotypes showed a nucleotide change at F3356, but not at M312. In addition, the F238 marker was always observed to be phylogenetically equivalent to F449, while both of the markers were assigned to the O3a1c2 haplogroup. The confirmed phylogenetic tree of this study with the newly suggested Y-SNPs could be valuable for anthropological and forensic investigations of East Asians including Koreans.

Haplotype and mutation analysis for newly suggested Y-STRs in Korean father-son pairs

Oh, Y.N.,Lee, H.Y.,Lee, E.Y.,Kim, E.H.,Yang, W.I.,Shin, K.J. Elsevier Science 2015 FORENSIC SCIENCE INTERNATIONAL GENETICS Vol.15 No.-

In this study, 363 Korean father-son haplotype transfers in 351 families were analyzed using an in-house multiplex PCR system for 14 Y-STRs (DYS385a/b, DYF387S1, DYS391, DYS449, DYS460, DYS481, DYS518, DYS533, DYS549, DYS570, DYS576, DYS627 and DYS643), that included 11 loci newly added to the PowerPlex Y23 system or the Yfiler Plus system. The Y-STRs showed gene diversity values ranging from 0.2499 to 0.9612; the multicopy Y-STR loci DYS385 and DYF387S1 had high gene diversity of 0.9612 and 0.9457, respectively. In addition, DYF387S1, which has two copies, showed three alleles in seven individuals, and micro-variant alleles were observed in 14 individuals at four loci (DYS448, DYS518, DYS570 and DYS627). Among 351 haplotypes for the 11 newly added Y-STRs, 350 different haplotypes were observed, with an overall haplotype diversity of 0.9999 and discrimination capacity of 99.72%. In 363 haplotype transfers from 351 pedigrees, 29 single-step mutations were observed at 11 Y-STRs. Locus-specific mutation rate estimates varied from 0.0 to 1.93x10<SUP>-2</SUP>, with an average estimated mutation rate of 6.66x10<SUP>-3</SUP>. Two father-son pairs had mutations at two different loci in 11 Y-STRs. The number of pairs with mutations at multiple loci increased to five when the mutation event was investigated for haplotype transfer at 28 Y-STRs including 17 Yfiler loci and 11 Y-STRs examined in this study: four father-son pairs had mutations at two loci, and one pair had mutations at three loci. Overall, mutations were frequently observed at DYS449, DYS576 and DYS627 loci, which are known to be rapidly mutating Y-STRs. Mutation rate estimates at most loci were not significantly different from rates in other populations, but estimates for DYF387S1, DYS518 and DYS570 were considerably lower in the Korean population than in other populations.

Analysis of 22 Y chromosomal STR haplotypes and Y haplogroup distribution in Pathans of Pakistan

Lee, E.Y.,Shin, K.J.,Rakha, A.,Sim, J.E.,Park, M.J.,Kim, N.Y.,Yang, W.I.,Lee, H.Y. Elsevier Science 2014 FORENSIC SCIENCE INTERNATIONAL GENETICS Vol.11 No.-

We analyzed haplotypes for 22 Y chromosomal STRs (Y-STRs), including 17 Yfiler loci (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DY438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y-GATA-H4) and five additional STRs (DYS388, DYS446, DYS447, DYS449 and DYS464), and Y chromosomal haplogroup distribution in 270 unrelated individuals from the Pathans residing in the Federally Administered Tribal Areas and the North-West Frontier Province of Pakistan using in-house multiplex PCR systems. Each Y-STR showed diversities ranging from 0.2506 to 0.8538, and the discriminatory capacity (DC) was 73.7% with 199 observed haplotypes using 17 Yfiler loci. By the addition of 5 Y-STRs to the Yfiler system, the DC was increased to 85.2% while showing 230 observed haplotypes. Among the additional 5 Y-STRs, DYS446, DYS447 and DYS449 were major contributors to enhancing discrimination. In the analysis of molecular variance, the Pathans of this study showed significant differences from other Pathan populations as well as neighboring population sets. In Y-SNP analysis, a total of 12 Y chromosomal haplogroups were observed and the most frequent haplogroup was R1a1a with 49.3% frequency. To obtain insights on the origin of Pathans, the network analysis was performed for the haplogroups G and Q observed from the Pathans and the Jewish population groups including Ashkenazim and Sephardim, but little support for a Jewish origin could be found. In the present study, we report Y-STR population data in Pathans of Pakistan, and we emphasize the need for adding additional markers to the commonly used 17 Yfiler loci to achieve more improved discriminatory capacity in a population with low genetic diversity.

A multiplex PCR system for 13 RM Y-STRs with separate amplification of two different repeat motif structures in DYF403S1a

Lee, E.Y.,Lee, H.Y.,Kwon, S.Y.,Oh, Y.N.,Yang, W.I.,Shin, K.J. ELSEVIER SCIENCE B V AMSTERDAM 2017 FORENSIC SCIENCE INTERNATIONAL GENETICS Vol.26 No.-

<P>In forensic science and human genetics, Y-chromosomal short tandem repeats (Y-STRs) have been used as very useful markers. Recently, more Y-STR markers have been analyzed to enhance the resolution power in haplotype analysis, and 13 rapidly mutating (RM) Y-STRs have been suggested as revolutionary tools that can widen Y-chromosomal application from paternal lineage differentiation to male individualization. We have constructed two multiplex PCR sets for the amplification of 13 RM Y-STRs, which yield small-sized amplicons (<400 bp) and a more balanced PCR efficiency with minimum PCR cycling. In particular, with the developed multiplex PCR system, we could separate three copies of DYF403S1a into two copies of DYF403S1a and one of DYF403S1b1. This is because DYF403S1b1 possesses distinguishable sequences from DYF403S1a at both the front and rear flanking regions of the repeat motif; therefore, the locus could be separately amplified using sequence-specific primers. In addition, the other copy, defined as DYF403S1b by Ballantyne et al., was renamed DYF403S1b2 because of its similar flanking region sequence to DYF403S1b1. By redefining DYF403S1 with the developed multiplex system, all genotypes of four copies could be successfully typed and more diverse haplotypes were obtained. We analyzed haplotype distributions in 705 Korean males based on four different Y-STR subsets: Yfiler, PowerPlex Y23, Yfiler Plus, and RM Y-STRs. All haplotypes obtained from RM Y-STRs were the most diverse and showed strong discriminatory power in Korean population. (C) 2016 Elsevier Ireland Ltd. All rights reserved.</P>

발화합성용액의 pH가 Y₁Ba₂Cu₃O_7-x 초전도상 생성 속도에 미치는 영향

박정식,김영순,양석우,김춘영,신형식,Park, J.S.,Kim, Y.S.,Yang, S.W.,Kim, C.Y.,Shin, H.S. 한국공업화학회 1998 공업화학 Vol.9 No.2

$Y_2O_3$(99.9%)와 $BaCO_3$(99.9%) 및 CuO(99.9%)를 사용하여 $Y_1Ba_2Cu_3O_{7-x}$(123) 분말을 발화합성법에 의해 제조하였다. 발화전 용액을 여러 가지 pH로 변화시켜 제조하였으며, 이 분말을 성형하여 열처리 온도와 시간 변화에 따른 상형성과 반응특성을 조사하였다. 시료의 조성과 조직의 특성은 ICP와 SEM을 이용하여 측정하였고, Y-Ba-Cu-O계의 상형성과 전화율을 결정하기 위해 X선 회절분석을 하였다. 발화합성법을 이용하여 pH 7(${\pm}0.3$)에서 제조된 123 분말이 순도와 균일성 및 반응특성에서 가장 좋은 결과를 보였다. pH 7(${\pm}0.3$)에서 제조된 분말을 이용한 123 상생성에 따른 활성화에너지(${\Delta}E_a$)는 191kJ/mol으로서 고상반응법의 230kJ/mol에 약 13% 정도 더 낮았다. The $Y_1Ba_2Cu_3O_{7-x}$(123) superconductor powders were prepared by pyrophoric synthesis method(PSM) using $Y_2O_3$(99.9%), $BaCO_3$(99.9%), and CuO(99.9%) powders. The phase formation and reaction kinetics of 123 superconductor manufactured with powders prepared in various pHs of pyrophoric synthetic solution have been studied through the experiments at various heat treatment temperatures and times. Inductively coupled plasma(ICP) spectroscopy and scanning electron microscopy(SEM) measurements were performed to examine the composition and morphology of the sample. X-ray diffraction(XRD) analysis was done to determine phase formation and conversion ratio of Y-Ba-Cu-O systems. The 123 powder prepared at pH 7(${\pm}0.3$) yields the best result in terms of purity, homogeneity, and reactivity. The activation energies(${\Delta}E_a$) of 123 phase formation were found to be 191 kJ/mol and 230kJ/mol in solid state reaction method and pyrophoric synthesis method, respectively.

발화합성용액의 pH 가 Y1Ba2Cu3O7-x 초전도상 생성 속도에 미치는 영향

박정식,김영순,양석우,김춘영,신형식 ( J . S . Park,Y . S . Kim,S . W . Yang,C . Y . Kim,H . S,Shin ) 한국공업화학회 1998 공업화학 Vol.9 No.2

Y₂O₃(99.9%)와 BaCO₃(99.9%) 및 CuO(99.9%)를 사용하여 Y₁Ba₂Cu₃O_(7-x)(123) 분말을 발화합성법에 의해 제조하였다. 발화전 용액을 여러 가지 pH로 변화시켜 제조하였으며, 이 분말을 성형하여 열처리 온도와 시간 변화에 따른 상형성과 반응특성을 조사하였다. 시료의 조성과 조직의 특성은 ICP와 SEM을 이용하여 측정하였고, Y-Ba-Cu-O계의 상형성과 전화율을 결정하기 위해 X선 회절분석을 하였다. 발화합성법을 이용하여 pH 7(±0.3)에서 제조된 123 분말이 순도와 균일성 및 반응특성에서 가장 좋은 결과를 보였다. pH 7(±0.3)에서 제조된 분말을 이용한 123 상생성에 따른 활성화에너지(ΔE_n)는 191 kJ/mol으로서 고상반응법의 230 kJ/mol에 약 13% 정도 더 낮았다. The Y₁Ba₂Cu₃O_(7-x)(123) superconductor powders were prepared by pyrophoric synthesis method(PSM) using Y₂O₃(99.9%), BaCO₃(99.9%), and CuO(99.9%) powders. The phase formation and reaction kinetics of 123 superconductor manufactured with powders prepared in various pHs of pyrophoric synthetic solution have been studied through the experiments at various heat treatment temperatures and times. Inductively coupled plasma(ICP) spectroscopy and scanning electron microscopy(SEM) measurements were performed to examine the composition and morphology of the sample. X-ray diffraction(XRD) analysis was done to determine phase formation and conversion ratio of Y-Ba-Cu-O systems. The 123 powder prepared at pH 7(±0.3) yields the best result in terms of purity, homogeneity, and reactivity. The activation energies(ΔE_n) of 123 phase formation were found to be 191 kJ/mol and 230 kJ/mol in solid state reaction method and pyrophoric synthesis method, respectively.

Effects of temperature on development, molting, and population growth of Yuukianura szeptyckii Deharveng & Weiner, 1984 (Collembola: Neanuridae)

Lee, Y.S.,Yang, N.H.,Son, J.,Kim, Y.,Park, K.H.,Cho, K. Elsevier Science B. V 2016 Applied soil ecology Vol.108 No.-

Neanuridae is one of the most diversified families of Collembola, but its biology and ecology are poorly understood. This is, to our knowledge, the first report on the biology of the neanurid species Yuukianura szeptyckii Deharveng & Weiner. Y. szeptyckii individuals were collected near a stream in Korea, and maintained on OECD artificial soil. This species showed a better reproductive performance on an artificial soil-based substrate than on charcoal-based substrate, and thus the soil-based substrate was used for investigating its biology. The sex ratio of Y. szeptyckii was found to be biased toward females (88.0%), and its mode of reproduction was sexual. The development, survival, longevity, reproduction, molting, and life table parameters of Y. szeptyckii were evaluated at 15, 20, 25, and 30<SUP>o</SUP>C. Individual growth was estimated by measuring head capsule widths. Mean developmental period from egg to adult decreased with increasing temperature from 73.7 d at 15<SUP>o</SUP>C to 25.6 d at 30<SUP>o</SUP>C. In the adult stage, ovipositional periods decreased with temperature from 273 d at 15<SUP>o</SUP>C to 45.5 d at 30<SUP>o</SUP>C, but senile periods increased at temperatures above 20<SUP>o</SUP>C. The developmental zero temperature was estimated to be 7.88<SUP>o</SUP>C. Median survival time (ST<SUB>50</SUB>s) and mean longevity decreased with temperature from 228d at 15<SUP>o</SUP>C to 98.0d at 30<SUP>o</SUP>C and from 401 d at 15<SUP>o</SUP>C to 177 d at 30<SUP>o</SUP>C, respectively. The maximum and minimum total number of eggs produced per individual were observed at 20<SUP>o</SUP>C (73.8 eggs) and 30<SUP>o</SUP>C (6.9 eggs), respectively. The head capsule width at first oviposition was significantly smaller at 25 and 30<SUP>o</SUP>C (0.30-0.31mm) than that at 15 and 20<SUP>o</SUP>C (0.45-0.46mm), while the head capsule width at last oviposition was smaller at 30<SUP>o</SUP>C (0.55mm) than that at 15 to 25<SUP>o</SUP>C (0.63-0.64mm). The molting rate (per individual per week) increased with temperature from 0.50 at 15<SUP>o</SUP>C to 1.43 at 30<SUP>o</SUP>C, but the total number of molts during the life span varied only slightly, ranging from 29.1 at 25<SUP>o</SUP>C to 33.2 at 30<SUP>o</SUP>C. The population reared at 20<SUP>o</SUP>C had the highest intrinsic rate of increase (0.060) and net reproductive rate (84.5), indicating that the optimal temperature for Y. szeptyckii population growth is 20<SUP>o</SUP>C. This study demonstrated that temperature can profoundly affect the development, molting, and population growth of Y. szeptyckii.

다운증후군의 산전진단을 위한 다양한 선별검사의 기여율 비교 - 산전 및 신생아때 진단된 96 례 분석 -

한정열(J . Y . Han),김문영(Y. M . Kim),조준형(J . H . Cho),안현경(H . K . Ahn),류현미(H . M . Ryu),김진미(J . M . Kim),김영미(Y . M . Kim),박소연(S . Y . Park),한혜경(H . K . Han),이영호(Y . H . Lee),양재혁(J . H . Yang) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.10

연구의 목적은 다운증후군을 산전진단하기 위한 다양한 산전선별검사 (나이; 35세 이상, 임산부 혈청 marker를 이용한 triple test, 초음파; 비정상 소견, 후경부 투명대 (nuchal translucency), 후경부두께 (nuchal fold thickness))의 기여율를 비교하기 위한 것이다. 1990년 1월부터 1999년 9월까지 본원에서 산전 및 산후에 진단된 례는 총 96례 이었다. 산전 및 신생아기에 진단된 다운증후군의 빈도는 각각 68례 (71 %), 28례 (29 %)였다. 다운증후군 태아를 임신했던 임산부의 평균연령은 33±5.7세이다. 다운증후군의 1,000분만당 연도별 빈도율은 1990년부터 1999년까지 각각 0.4, 1.3, 0.7, 0.7, 1.6, 0.7, 1.2, 2.2, 2.0, 그리고 2.3 (Y=0.28±0.18 year, P=0.01)이었다. 산전진단된 다운증후군의 비율 (%)은 지난 10년간 각각 0 (0/2), 43 (3/7), 50 (2/4), 25 (1/4), 56 (5/9), 100 (5/5), 71 (5/7), 78 (14/18), 78 (14/18), 그리고 89 (17/19) (Y=12.9±8.9 year, P=0.000) 이었다. 다운증후군을 산전진단하기 위한 다양한 산전선별 검사에 따른 기여율은 35세이상의 연령에 의하면 30.2±5.6 %, triple test의 경우 18.2±3.4 %, 초음파에 의한 경우 51.7±6.3 % 이며, 초음파에 의한 산전 선별 검사가 통계적으로 유의하게 연령이나 triple test에 의한 경우 보다 다운증후군의 산전진단에 기여율이 높았다. (P=0.008) 결론적으로 본 연구에 의하면 지난 10년 동안 다운증후군을 산전 진단하기 위한 여러 선별 검사방법의 적용은 효율적이었으며, 특히 초음파에서 다양한 소견을 이용한 다운증후군의 산전선별검사는 연령이나 triple test 보다는 더욱더 의미가 있다고 추론된다. Objective : The purpose of this study was comparison of the contribution rate for prenatal diagnosis of Down syndrome using various screening methods (Age: greater than or equal to 35 years old, Serum markers: Triple test, Ultrasonography: abnormal sonographic findings, nuchal translucency, nuchal fold thickness).Methods : Total 96 cases of Down syndrome, prenatally or postnatally diagnosed between Jan. 1990 and Sept. 1999, made up the study population. We got the contribution rate of various prenatal screening methods of down syndrome, and obtained the efficiency of various screening program applied for last 10 years. Results : The frequencies of Down syndrome confirmed in prenatal and postnatal were 68 (71%) and 28 (29%) in respectively. The mean age of mother of Down syndrome fetus was 33.0±5.7 years old. The frequency rate of Down syndrome was 0.4, 1.3, 0.7, 0.7, 1.6, 0.7, 1.2, 2.2, 2.0 and 2.3 a 1,000 deliveries from 1990 to 1999 (Y= 0.28+0.18 year, P=0.01). The percentage of Down syndrome diagnosed prenatally was 0 (0/2), 43 (3/7), 50 (2/4), 25 (1/4), 56 (5/9), 100 (5/5), 71 (5/7), 78 (14/18), 78 (14/18) and 89 (17/19) from 1990 to 1999 (Y= 12.9+8.9 year, P=0.000). The contribution rate of prenatal diagnosis for Down syndrome was 30.2±5.6% by age, 18.2±3.4% by triple test and 51.7±6.3% by ultrasonography, and was significantly difference among each screen methods (P=0.008). Conclusions : This study shows that our prenatal screening program is highly effective to detect Down syndrome and especially ultrasonographic findings (abnormal sono findings, Nuchal translucency, Nuchal fold thickness) may be more important than that of age or Triple test to detect the Down syndrome prenatally.

중년 남성의 갱년기 증상 유･무에 따른 가족관계와 건강증진행위 비교

강민형,김소영,김하은,안상아,양혜지,이예지,이유진,정수영,최윤영,최지윤,신수진,이민경 이화여자대학교 간호과학대학 2017 이화간호학회지 Vol.- No.51

Purpose: The purpose of this study was to examine the difference of family relationship and health promoting behaviors between two groups depending on presence and absence of climacteric symptoms among middle-aged male. Methods: Samples of 220 men aged between 40 and 64 were recruited from metropolitan areas. The subjects responded to self-report questionnaires on general characteristics, climacteric symptoms, family relationship and health promoting behaviors. Data was collected from September 13, 2016 to September 30, 2016 and analyzed by using t-test, Pearson's correlation efficient, -test, frequency and percentage analysis. Result: In general characteristics of subjects, according to the presence or absence of climacteric symptoms, there were significant differences in occupation( =12.12, p=0.02), average monthly incom ( =11.01, p=0.01), and physical condition( =12.07, p=0.02). Mean scores of family relationship(t=-2.784, p=.008) and health promotion behaviors(t=3.629, p=.000) were significantly higher in climacteric symptom group. Significant positive correlation appeared between family relationship and health promoting behaviors in both presence(r=.493, p=.000) and absence group(r=.698, p=.000). But climacteric symptoms were in negative correlation with family relationship(r=-.187, p=.018) and health promoting behavior(r=-.233, p=.002) only in presence group. Conclusion: This study suggests that family relationship and health promoting behaviors should be considered in developing nursing intervention for climacteric middle–aged males.

단섬유강화 고분자 복합재료의 압축성형에 있어서 섬유배향에 미치는 압축비의 영향

허엽,이상동,김옥만,안종윤,양광영,한길영 조선대학교 생산기술연구소 1996 生産技術硏究 Vol.18 No.1

In this study basic equations of fiber orientations is compared with experimental results. It is found that fiber orientations of short fiber reinforced polymeric composite under compression molding are governed by slope of flow speed in x-y direction. Fiber orientation angle of mold is also found to increase with closure speed and the compression ratio. At the middle of the mold. the slope of flow speed is larger in x-direction than in Y-direction. At the wall of the mold. the slope of flow speed in y-directicn occurs due to the effect of friction. hence affects the fiber orientation. The effect of partial flow. which incurs y-direction orientation causes to increase the fiber orientation angle at the fore part of the flow.