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.

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.

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.

Investigation into the sequence structure of 23 Y chromosomal STR loci using massively parallel sequencing

Kwon, S.Y.,Lee, H.Y.,Kim, E.H.,Lee, E.Y.,Shin, K.J. Elsevier Science 2016 FORENSIC SCIENCE INTERNATIONAL GENETICS Vol.25 No.-

Next-generation sequencing (NGS) can produce massively parallel sequencing (MPS) data for many targeted regions with a high depth of coverage, suggesting its successful application to the amplicons of forensic genetic markers. In the present study, we evaluated the practical utility of MPS in Y-chromosome short tandem repeat (Y-STR) analysis using a multiplex polymerase chain reaction (PCR) system. The multiplex PCR system simultaneously amplified 24 Y-chromosomal markers, including the PowerPlex<SUP>®</SUP> Y23 loci (DYS19, DYS385ab, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS481, DYS533, DYS549, DYS570, DYS576, DYS635, DYS643, and YGATAH4) and the M175 marker with the small-sized amplicons ranging from 85 to 253bp. The barcoded libraries for the amplicons of the 24 Y-chromosomal markers were produced using a simplified PCR-based library preparation method and successfully sequenced using MPS on a MiSeq<SUP>®</SUP> System with samples from 250 unrelated Korean males. The genotyping concordance between MPS and the capillary electrophoresis (CE) method, as well as the sequence structure of the 23 Y-STRs, were investigated. Three samples exhibited discordance between the MPS and CE results at DYS385, DYS439, and DYS576. There were 12 Y-STR loci that showed sequence variations in the alleles by a fragment size determination, and the most varied alleles occurred in DYS389II with a different sequence structure in the repeat region. The largest increase in gene diversity between the CE and MPS results was in DYS437 at +34.41%. Single nucleotide polymorphisms (SNPs), insertions, and deletions (indels) were observed in the flanking regions of DYS481, DYS576, and DYS385, respectively. Stutter and noise ratios of the 23 Y-STRs using the developed MPS system were also investigated. Based on these results, the MPS analysis system used in this study could facilitate the investigation into the sequences of the 23 Y-STRs in forensic genetics laboratories.

韓國人의 標準體重値와 正常適應體重値에 關한 硏究

尹太永,崔重明,朴淳永,金大棒 韓國保健敎育學會 1996 보건교육건강증진학회지 Vol.13 No.1

Using Random Sampling, the authors measured the body heights and weights of 31,151 persons- 17,102 in males and 14,049 in females from metropolitan, urban and rural areas between 6 to over 80 year old - for the purpose of investigating the type and the actual condition of the Korean's growth and development. At first, on the basis of the results, the authors measured the growth and development, various kinds of physiques, nutritional index of the 6 to 20s age group. Second, the authors presented the standard body weight of males and females by their body height, who were in the end of their growth (20-29 age group). Third, the authors calculated and presented the normal adapted body weight of the age group who were over 30 age after the growth had been completed. Forth, the author presented the obesity rate of the adults over 20 years old by body mass index. Finally, the authors compared chronological change of the Koreans' body heights and body weights with the results of other researchers. 1. Body Measurement Rapid growth, in terms of body height, which is described by a straight line on a growth curve has been observed among males in the ages 6-13 and among females 6-14. That growth curve turned out to be slower among the people of higher ages by both sexes. The cross-over occurred in both sexes at 11-14. The highest growth rate for a year is at 13-16 for males and 11-13 for females. This indicates that females enter a rapidly growing stage 2 years earlier than males. 2. Various Physiques and Nutritional Index Rapid growth, in terms of Relative Body Weight Index, which is described by a straight line, has been observed among males in the ages 6-16 and females in the ages 6-14. The cross-over occurred in both sexes 12.5-14.5 age in the adolescencent period. Whereupon females outgrow males. The Roher Index displayed more good value in case of females than male and in the adolescent period, the level of fullness is lower than after the completion of development. The Kaup Indices of both sexes increase with age. The index is less than 2.0 for males in 6-14 age group and for females in 6-13 age group and with this, it appeared that development of horizontal axis to long axis is poor. The index is more than 2.0 after 15 age group in males and 14 age group in females and developmental state4 age group and for females in 6-13 age group and with this, it appeared that development of horizontal axis to long axis is poor. The index is more than 2.0 after 15 age group in males and 14 age group in females and developmental state. Body Mass Index is less than 20 for males 6-14 age group and for females in 6-13 age group. In the case of the higher age group, that index maintains a normal state. 3. Average Body Height, Body Weight and Desirable Body Weight of Korean Youth (20-29 Age Group) The average body weight and body height of full-grown Korean youth was 172.5 ± 5.4㎝ and 66.3 = 9.5㎏ for male, 159.3 ±4.6 ㎝ and 53.5 ±6.9 ㎏ for females. In the case of calculating Desirable Body Weight of Korean youth, correlation coefficient of r = + 0.38(p < 0.001)between body height and body weight was found the male group and r = + 0.37(p < 0.001) in the female group, from which respective linear regression equation of body weight and height was established for male and female as follows; Male : Y(Body Weight, ㎏) = 0.66 x (Body Height, ㎝) - 48.93 Female :Y(Body Weight, ㎏) = 0.56 x (Body Height, ㎝) - 36.01 4. Formulae for calculating Normal Adapted Body Weight of Korean Adult. ⅰ)Average body height and body weight by age-groups 30-39 age-group Male : 170.4 ±4.9㎝ and 67.6 ±8.1㎏ Female : 158.5 ±3.9㎝ and 53.6 ±6.0㎏ 40-49 age-group Male : 169.1 ±4.9㎝ and 68.0 ±8.5㎏ Female : 157.3 ±4.7㎝ and 56.8 ±7.7㎏ 50-59 age-group Male : 168.1 ±6.8㎝ and 66.0 ±8.1㎏ Female : 157.2 ±4.7㎝ and 57.3 ±7.1㎏ 60-69 age-group Male : 168.0 ±5.3㎝ and 46.7 ±8.7㎏ Female : 155.2 ±5.0㎝ and 56.2 ±9.1㎏ Over 70 age-group Male : 166.1± 6.5㎝ and 62.8±1.2㎏ Female : 152.8 ±5.3㎝ and 52.8 ±8.5㎏ ⅱ) Correlation Coefficient and Linear Regression Equation by Age-groups 30-39 age-group Male : r=+0.44(p<0.001), Y=0.73X-57.94 Female : r=+0.45(p<0.001), Y=0.68X-55.52 40-39 age-group Male : r=+0.54(p<0.001), Y=0.93X-89.92 Female : r=+0.41(p<0.001), Y=0.67X-50.52 50-59 age-group Male : r=+0.32(p<0.001), Y=0.38X-1.22 Female : r=+0.37(p<0.001), Y=0.55X-29.76 60-69 age-group Male : r=+0.51(p<0.001), Y=0.83X-74.84 Female : r=+0.39(p<0.001), Y=0.70X-53.06 over 70 age-group Male : r=+0.63(p<0.001), Y=1.10X-119.96 Female : r=+0.40(p<0.001), Y=0.63X-44.64 Standard Body Weight and Normal Adapted Body Weight of Korean Adult by Age. Using respective regression equation, standard body weight<Table 10, 11>, normal adapted body weight <Table 12~21>, overweight and underweight of the Korean Adult was established for each age group. 6. Obesity Rate of Korean Adult Obesity rate of Korean adult was 9.4% (Male: 9.9%, Female : 8.4%). 7. The Chronological Change on Mean Values of Body Height and Body Weight in Korean Adult The Comparison with the mean values of body height and weight from 1910s to the present 1994 was been remarkably improved, and listed in <Table 23>.

Cellulase-amyloglucosidase와 효모의 가스생성법에 의한 사료의 에너지가 측정에 관한 연구

김영길,이광목,김욱 東亞大學校生命資源科學大學附設 農業資源硏究所 1993 農業生命資援硏究 Vol.2 No.2

粗飼料와 濃厚飼料를 混合한 飼料의 營養價를 Cellulase와 Amyloglucosidase, 酵母를 利用한 가스 生成法에 의하여 消化率과 TDN을 測定할 수 있는 方法을 確立하고자 本 硏究를 實施한 實驗 結果는 다음과 같다. 1. Cellulose 加水分解 酵素인 Trichoderma viride cellulase의 最適 活性 pH는 4.5-4.8이었으며 pH가 5.0보다 높을 때에는 活性이 急激히 저하하였다. 2. Cellulose 加水分解시 Trichoderma viride celulase의 溫度의 의한 影響은 50℃에서 最大 活性을 나타내었으며, 40℃에서는 活性이 92%정도로 나타났다. 3. Trichoderma viride-aspergillus niger 混合, cellulase 使用時의 가스 生成量은 Trichoderma viride cellulase 使用時 가스 生成量 보다 20-30% 높게 나타났으므로 cellulose 加水分解時 Trichoderma viride-aspergillus niger 混合 cellulase를 使用하는 것이 더욱 效果的일 것으로 思料된다. 4. 포도당(X)과 가스 生成量(Y)과의 關係는 Y=6.82+165X의 回歸式과 相關係數는 0.92로서 高度의 有意性(P<0.01)이 있었다. 5. Trichoderma viride cellulase 使用時 가스 生成量(X)과 乾物 消化率(Y)과의 關係는 Y=29.9+1.13X(r=78**)의 回歸式을 나타내었고, Trichoderma viride-aspergillus niger 混合 vellulase 使用時 가스 生成量(X)과 乾物 消化率(Y)과의 關係는 Y=28.9+0.88X(r=0.82**)의 回歸式을 나타내었다. Trichoderma viride cellulase 使用時 보다 Trichoderma viride-aspergillus niger 혼합 cellulase 사용시 相關係數가 더 높았다. 6. 가스 生成量(X)과 TDN(Y)과의 關係는 Y=35.8+0.585X의 回歸式과 相關係數 0.93으로서 高度의 有意性을 나타내었고, TDN(X)과 가스 生成量(Y)과의 關係는 Y=1.68X-59.6의 回歸式을 나타내었다. The experiment was conducted to establish the gas production method by cellulase, amyloglucosidase and yeast to determine the digestibility and energy value(TDN) of feedstuffs. The results obtained were summarized as follows; 1. The highest activity of Trichoderma viride cellulase was shown at pH 4.8 and the activity of the cellulase decreased rapidly at higher pH than 5.0. 2. The highest activity of Trichoderma virie cellulase was shown at 50℃ and the activity at 40℃ was approximately 92% compared with that at 50℃. 3. The mixed celllulases of Trichoderma viride and Aspergillus nigher produced more gas than Trichoderma viride cellulase when incubated with feedstuffs and were identified to be more effectively used for gas production method. 4. The regression equation of gas production(Y) on glucose production (X) was Y=6.82+165X with significant correlation coefficient of 0.92. 5. The regression equation of DMD(Y) on gas production(X) was Y=29.9+1.13X(r=0.78) with Trichoderma viride cellulase and Y=28.9+0.88X (r=0.82) with both Trichoderma viride and Aspergillus niger cellulase. 6. The regression equation of TDN(Y) on gas production(X) was Y=35.8+0.58X with significant correlation coefficients of 0.93 and in conclusion energy value of feedstuffs can be estimated by gas production method.

Effects of calcium doping on the superconducting properties of top-seeded melt growth processed Y_1.5Ba_2-xCa_xCu₃O_y superconductors

Park, S.D.,Kim, H.J.,Park, B.J.,Han, Y.H.,Jun, B.H.,Lee, J.S.,Kim, C.J. North-Holland 2011 Physica. C, Superconductivity Vol.471 No.21

The effect of calcium doping on the superconducting properties of top seeded melt growth (TSMG) processed Y<SUB>1.5</SUB>Ba<SUB>2-x</SUB>Ca<SUB>x</SUB>Cu<SUB>3</SUB>O<SUB>y</SUB> superconductors was studied in terms of calcium content (X<SUB>ca</SUB>). YBa<SUB>2-x</SUB>Ca<SUB>x</SUB>Cu<SUB>3</SUB>O<SUB>7-δ</SUB> (X<SUB>ca</SUB>=0, 0.005, 0.01, 0.02, 0.04, 0.1, 0.3) powders were synthesized by the powder calcination method. YBa<SUB>2-x</SUB>Ca<SUB>x</SUB>Cu<SUB>3</SUB>O<SUB>7-δ</SUB> powders were mixed with 0.25mole Y<SUB>2</SUB>O<SUB>3</SUB> powder and 1wt.% CeO<SUB>2</SUB> as Y<SUB>2</SUB>BaCuO<SUB>5</SUB> (Y211) refiner, and finally made into Y<SUB>1</SUB>.<SUB>5</SUB>Ba<SUB>2-x</SUB>Ca<SUB>x</SUB>Cu<SUB>3</SUB>O<SUB>y</SUB> (Y1.5)+1wt.% CeO<SUB>2</SUB> composition. The single Y123 growth on the top surface was observed up to X<SUB>ca</SUB>=0.1, while the multiple Y123 growth was observed at X<SUB>ca</SUB>≥0.1. The superconducting transition temperature (T<SUB>c</SUB>) and critical current density (J<SUB>c</SUB>) of TSMG processed Y1.5 samples were inversely proportional to X<SUB>ca</SUB>. The Y211 size increased with increasing X<SUB>ca</SUB> due to the enhancement of Y211 coarsening by calcium doping. No Y211 refining effect by CeO<SUB>2</SUB> was observed in the calcium doped samples. The T<SUB>c</SUB> and J<SUB>c</SUB> decrease by calcium doping are likely to be due to the calcium incorporation with the Y123 lattice and formation of coarse Y211 particles.

딥러닝 기법을 이용한 전해가공의 홀가공 특성 분석

최승건(S. G. Choi),김준영(J. Y. Kim),이은상(E. S. Lee) 한국생산제조학회 2019 한국생산제조시스템학회 학술발표대회 논문집 Vol.2019 No.5

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>

Effects of Y₂O₃ additions on the oxygen diffusion in top-seeded melt growth processed YBa₂Cu₃O_7-y superconductors

Jun, B.H.,Jung, S.A.,Park, S.D.,Park, B.J.,Han, Y.H.,Kim, C.J. North-Holland 2011 Physica. C, Superconductivity Vol.471 No.21

To understand the effect of Y<SUB>2</SUB>BaCuO<SUB>5</SUB> (Y211)/YBa<SUB>2</SUB>Cu<SUB>3</SUB>O<SUB>7-y</SUB> (Y123) interfaces on the oxygen diffusion in single grain YBa<SUB>2</SUB>Cu<SUB>3</SUB>O<SUB>7-y</SUB> superconductors, single grain Y123 superconductors with 0.05 and 0.3moles of Y<SUB>2</SUB>O<SUB>3</SUB> additions were fabricated by a top-seeded melt growth (TSMG) process. Y123 compacts with Y<SUB>2</SUB>O<SUB>3</SUB> additions were subjected to melt growth heating cycles with a cooling rate of 1<SUP>o</SUP>C/h through a peritectic temperature (1015<SUP>o</SUP>C) and then annealed at 450<SUP>o</SUP>C for 200h in flowing oxygen. The superconducting temperature (T<SUB>c</SUB>) and critical current density (J<SUB>c</SUB>) were estimated for the three different regions (top surface (s), intermediate (i) and center (c)) of samples. The amount of Y211/Y123 interface area in single grain Y123 superconductors was successfully controlled by Y<SUB>2</SUB>O<SUB>3</SUB> additions. The T<SUB>c</SUB> values of s regions were higher than those of i and c regions, which indicates the presence of more oxygen at the sample surfaces. In addition, the T<SUB>c</SUB> values of i and c regions of the Y123 sample with 0.3mole Y<SUB>2</SUB>O<SUB>3</SUB> addition were higher than those of the same regions of the Y123 sample with 0.05mole Y<SUB>2</SUB>O<SUB>3</SUB> addition due to the promoted oxygen diffusion through Y211/Y123 interfaces and other related defects. In spite of the promoted oxygen diffusion by Y<SUB>2</SUB>O<SUB>3</SUB> addition, the large T<SUB>c</SUB> difference among the regions still existed, which suggests sluggish oxygen diffusion into single Y123 grains.