• Title/Summary/Keyword: D4Z4 repeat

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A Case of Facioscapulohumeral Muscular Dystrophy Confirmed by Genetic Analysis (유전자분석으로 진단한 얼굴어깨위팔근육디스트로피 1예)

  • Lee, Seok-Ho;Ki, Chang-Seok;Lee, Seung-Chul;Park, Jin-Seok;Koh, Seong-Ho;Lee, Kyu-Yong
    • Annals of Clinical Neurophysiology
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    • v.10 no.1
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    • pp.66-69
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    • 2008
  • Facioscapulohumeral muscular dystrophy (FSHD), the third most common inherited muscular dystrophy, is an autosomal dominant disease characterized by progressive weakness and wasting of the facial, shoulder-girdle, upper arm, foot extensor, and pelvic girdle muscles. FSHD is caused by contraction of the polymorphic D4Z4 repeat in the subtelomere of chromosome 4q. However, there has been no report of genetically confirmed FSHD in Korea. We report a patient with FSHD who was found to have a deletion of D4Z4 repeat on chromosome 4q35.

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GPS Satellite Repeat Time Determination and Orbit Prediction Based on Ultra-rapid Orbits (초신속궤도력 기반 GPS 위성 repeat time 산출 및 궤도 예측)

  • Lee, Chang-Moon;Park, Kwan-Dong;Kim, Hye-In;Park, Jae-Min
    • Journal of the Korean Society of Surveying, Geodesy, Photogrammetry and Cartography
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    • v.27 no.4
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    • pp.411-420
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    • 2009
  • To plan a GPS survey, they have to decide if a survey can be conducted at a specific point and time based on the predicted GPS ephemeris. In this study, to predict ephemeris, we used the repeat time of a GPS satellite. The GPS satellite repeat time was determined by analysing correlation among three-dimensional satellite coordinates provided by the 48-hour GPS ephemeris in the ultra-rapid orbits. By using the calculated repeat time and Lagrange interpolation polynomials, we predicted GPS orbits f3r seven days. As a result, the RMS of the maximum errors in the X, Y, and Z coordinates were 39.8 km 39.7 km and 19.6 km, respectively. And the maximum and average three-dimensional positional errors were 119.5 km and 48.9 km, respectively. When the maximum 3-D positioning error of 119.5 km was translated into the view angle error, the azimuth and elevation angle errors were 9.7'and 14.9', respectively.

Genetic Diversity and Phylogenetic Analysis of the mtDNA D-loop Region in Tibetan Sheep

  • Wang, X.;Chen, H.;Lei, C. Z.
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.3
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    • pp.313-315
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    • 2007
  • Seventeen haplotypes were detected from the complete mitochondrial DNA control region sequences analyzed from eighty individuals of two Tibetan domestic sheep breeds. The nucleotide composition of all the sequences was 33.0% A, 29.7%T, 22.9%C and 14.4%G; G+C was 37.3%. The length of the sequences ranged from 1,107 bp to 1,259 bp. The difference between them was primarily due to 3-5 copy numbers of a 75 bp tandem repeat sequence. The NJ phylogenetic tree (the number of replications of bootstrap test is 1,000) presented three major domestic sheep lineages, which suggested that modern Tibetan sheep breeds are derived from three maternal sources.

Chloroplast genome of the conserved Aster altaicus var. uchiyamae B2015-0044 as genetic barcode

  • Lee, Minjee;Yi, Jae-Sun;Park, Jihye;Lee, Jungho
    • Journal of Species Research
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    • v.10 no.2
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    • pp.154-158
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    • 2021
  • An endemic endangered species, Aster altaicus var. uchiyamae (Danyang aster) B2015-0044, is cultivated at the Shingu Botanical Garden, which serves as the ex situ conservation institution for this species. In this work, we sequenced the chloroplast genome of A. altaicus var. uchiyamae B2015-0044. We found that the chloroplast (cp) genome of B2015-0044 was 152,457 base pairs(bps) in size: 84,247 bps of large single copy regions(LSC), 25,007 bps of inverted repeats(IRs), and 18,196 bps of small single copy regions. The B2015-0044 cp genome contains 79 protein-coding genes (PCGs), 4 RNA genes, 29 tRNA genes, and 3 pseudogenes. These results were identical to a previously reported cp genome (Park et al., 2017), except for two sites in introns and three in intergenic spacer (IGS) regions. For the intronic differences, we found that clpP.i1 had a 1-bp small simple repeat (SSR) (T) and petD.i had a 3-bp SSR (ATT). We found 1-bp SSRs in the IGSs of trnT_ggu~psbD and psbZ~trnG_gcc, C and A, respectively. The IGS of(ndhF)~rpl32 had a SNP. Based on our results, the cp genome of the A. altaicus var. uchiyamae can be classified into two genotypes, [C]1-[A]12-[T]12-[ATT]4-C and [C]2-[A]11-[T]11-[ATT]2-A.

The Solvent-Independent Structure of 6-(2-pyridyl)-3, 5-hexadiyn-1-ol (6-(2-pyridyl)-3, 5-hexadiyn-1-ol의 용매 비의존 분자구조)

  • 서일환;이진호
    • Korean Journal of Crystallography
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    • v.6 no.1
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    • pp.36-42
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    • 1995
  • Two types of single crystals of the title compound [6-(2-pyridyl)-3, 5-hexadiyn-ol, PyHxD] were obtained by solution of n-hexane/CH2C12 and n-hexane/Et2O, and their molecular conformations are proved identical in spite of different of space groups; C22H18N2O2 (I), Mr=343.70, Monoclinic, Pa, a=14.595(2), b=5.413(2), c=12.218(2)Å, β=96.86(1)°, V=958.3Å3, Z=2, Dx=1.19 Mgm-3, λ(MoKα)=0.71069Å, μ=0.072mm-1, F(000)=360.0, T=292K, R=0.104 for 756 unique observed reflections. An asymmetric unit contains a dimer connected by two N-H…O intermolecular hydrogen bonds. C11H9NO (II), Mr=171.85, Monoclinic, P21/a, a=14.611(2), b=5.423(6), c=12.191(2)Å, β=96.89(1)°, V=959.0Å3, Z=4, Dx=1.19 Mgm-3, λ(MoKα)=0.71069Å, μ=0.072mm-1, F(000)=360.0, T=293K, R=0.066 for 824 unique observed reflection. The structural asymmetric unit contains a molecule, but two N-H…O hydrogen bonds related by controsymmetry make the molecules form a dimer. In both structure, the dihedral angle between the planar pyridyl ring and the plane defined by C(10)-C(11)-O connected by linear diyne chain is approximately normal, and the molecules are stacked along b-axis with the unit repeat of b-axis.

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