• Journal of Photoscience
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• 제12권2호
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• pp.75-82
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• 2005

Rumex acetosa L. is a dioecious flowering plant with well developed sex chromosome system: 2n = 12 + XX in the female plants and 2n = 12 + XY1Y2 in the male plants. To isolate sex-linked DNA, we carried out chromosome micromanipulation, followed by DOP-PCR, AFLP of the PCR products, reverse Southern hybridization and sequence analysis. From 500 AFLP specific clones, 13 X-chromosome and 5 Y-chromosome specific clones were obtained. Except one clone RADAX-239 ($\underline{R}umex\;\underline{a}-\underline{D}OP-PCR-\underline{A}FLP-\underline{Y}-chromosome\;specific$), all clones appear to be R. acetosa plant-specific sequences and non-coding sequences. Southern blot analysis using these clones could not discriminate genomic DNAs either from male or female plants. Results of this study imply that both autosome-origin and degeneration of sex chromosomes are prevalent in plant systems.

• 식물조직배양학회지
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• 제21권1호
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• pp.59-63
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• 1994

세포유전적 유형이 다른 무릇 (Scilla scilloidise Coplex)의 조직배양에서 유도된 캘러스에서 염색체 변이를 조사하였다. AA유형의 캘러스에서 심한 수적, 구조적 변이가 관찰된 반면, BB 유형의 캘러스 세포에서는 상염색체의 변이가 발견되지 않았다. 이질 4배체인 AABB유형에서는 두개의 hypoploid 세포만 관찰되었으나, B게놈의 진정4배체인 BBBB유형에서는 hypoploid 세포와 함께 hyperploid 세포가 관찰되었다. 캘러스 세포에서 상염색체의 안정성은 B염색체를 지닌 식물에서 유도된 캘러스에서 더 높게 나타났다. 이는 배양세포에서 B염색체가 상염색체의 안정성에 선택적으로 기능하기 때문인 것으로 여겨진다.

• 한국환경과학회지
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• 제7권5호
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• pp.599-605
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• 1998

The purpose of this work was to examine whether X-Y chromosome dissociation in the primary spermatocytes of mice could be used as an in vivo short-term assaying system that detect environmental mutagens. Four alkylating agents(EMS, MMS, MMC and MNNG) which were known as strong mutagens were administered to BALB/c male mice 3-4 months old. In the control group, the mean frequencies of previously dissociated X and Y chromosomes and autosomes were 7.17% and 2.12%, respectively. Compared to the control group, mutagen-treated groups have no significant differences in dissociation rate of autosomes, while these poops were about 1.2-2.5 times higher in the frequencies of X-Y dissociation. Generally, X-Y dissociation frequency increased consistently with the concentration of mutagens whereas the tendency of autosome dissociation frequency was variable among several mutagens. These results suggest that X-Y dissociation in the primary spermatocytes of mice is applicable as an vivo short-term assaying system for environmental mutagens. There were significantly distinct increase in dissociation of X-Y chromosome in both the hybrid and parents but the X-Y previous dissociation of hybrid appeared higher frequency than BALB /c and wild mice. These results indicate that the factor related to binding X-Y chromosome is specific to strains.

• 대한임상검사과학회지
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• 제36권2호
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• pp.205-209
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• 2004

This study was carried out to review and evaluate a total of 2,463 cases of human chromosomal analysis at Kwangju Christian Hospital from 1974 to 2004. We collected 2.0-3.0ml of human peripheral blood in heparized bottle. Then, we cultured it for 72 hours. We performed GTG-banding and chromosomal kayotyping analysis by Cytovision kayotyping system. Abnormal karyotypes were observed in 30.5% of the total cases (750/2,463). Autosome and sex chromosome anomalies were observed in 25.8% (635/2,463) and 4.7% (115/2,463) respectively. In a total of 2463 cases, there were 522 (22.4%) cases of Down's syndrome karyotype, and 67 (2.7%) cases of Turner syndrome. In conclusion, Down's syndrome has decreased after the end of the 1990s, but other (Turner syndrome et al.) chromosomal abnormal cases haven't decreased after the1970s.

• 한국연초학회지
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• 제17권1호
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• pp.49-56
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• 1995

Morphology, chromosome and transmission of potato virus Y(PVY) of the green peach aphid populations collected from tobacco fields were examined. Based on the morphological characteristics, especially values of linear discriminant functions and length of ultimate rostral segment, 8 green peach aphid clones with different color morphs could be divided into two groups, namely Myzus persicae and M. nicotianae, according to the proposal by Blackman in 1987. The red (RED)-, Brown (BRN)- and green-colored (GR1, GR2) aphid clones belonged to the M. nicotianae type, while the pale green (PG1, PG2, PG3) and dark brown (DBR) clones to the M. persicae type. The karyotype of the pale green-colored clone (PG1, M. persicae type) appeared normal and was 2n=12 with no indication of chromosomal translocation. On the contrary, in the green-colored aphid clone (GR1, M. nicotianae type), translocation and dissociation of autosome 3 were often found, having karyotype of 2n=13. Both of the above aphid clones transmitted PVY-VN to tabacco plants (cv. Burley 21), but the GR1 clone had higher transmissibility than the PG1 clone.

• 대한유전성대사질환학회지
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• 제13권2호
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• pp.126-130
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• 2013

Galactosemia is a metabolic disorder inherited by the recessive autosome, and appears by the deficiency of one enzyme out of GALT (Galactose-1-Phosphate Uridyltransferase), GALK (galactokinase), and GALE (epimerase) enzymes, among which the GALT deficiency disease is denominated as classical galactosemia and known to have symptoms such as severe nausea, jaundice, hepatomegaly, sucking difficulty and so on. We report the case of a 16-day-old female baby with the new p.A101D mutation together with p.N413d in the GALT gene analysis found in the neonatal screening test and diagnosed to have galactosemia by the GALT deficiency through the enzyme analysis. For the prognosis prediction, the treatment, the genetic counseling and the prenatal diagnosis of the patients, more detailed genetic diagnosis is required by performing GALT gene analysis, and it is deemed to be necessary to analyze the correlation between the phenotype and the genotype of the domestic galactosemia patients.

• Asian-Australasian Journal of Animal Sciences
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• 제28권7호
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• pp.926-935
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• 2015

The efficiency of genome-wide association analysis (GWAS) depends on power of detection for quantitative trait loci (QTL) and precision for QTL mapping. In this study, three different strategies for GWAS were applied to detect QTL for carcass quality traits in the Korean cattle, Hanwoo; a linkage disequilibrium single locus regression method (LDRM), a combined linkage and linkage disequilibrium analysis (LDLA) and a $BayesC{\pi}$ approach. The phenotypes of 486 steers were collected for weaning weight (WWT), yearling weight (YWT), carcass weight (CWT), backfat thickness (BFT), longissimus dorsi muscle area, and marbling score (Marb). Also the genotype data for the steers and their sires were scored with the Illumina bovine 50K single nucleotide polymorphism (SNP) chips. For the two former GWAS methods, threshold values were set at false discovery rate <0.01 on a chromosome-wide level, while a cut-off threshold value was set in the latter model, such that the top five windows, each of which comprised 10 adjacent SNPs, were chosen with significant variation for the phenotype. Four major additive QTL from these three methods had high concordance found in 64.1 to 64.9Mb for Bos taurus autosome (BTA) 7 for WWT, 24.3 to 25.4Mb for BTA14 for CWT, 0.5 to 1.5Mb for BTA6 for BFT and 26.3 to 33.4Mb for BTA29 for BFT. Several candidate genes (i.e. glutamate receptor, ionotropic, ampa 1 [GRIA1], family with sequence similarity 110, member B [FAM110B], and thymocyte selection-associated high mobility group box [TOX]) may be identified close to these QTL. Our result suggests that the use of different linkage disequilibrium mapping approaches can provide more reliable chromosome regions to further pinpoint DNA makers or causative genes in these regions.

• 한국동물학회지
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• 제7권2호
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• pp.41-47
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• 1964

D.auraria is a species belonging to the D.melanogaster group, and this species was divided into 3 races(A, B and C race ) by morphoogical difference of the genitals . Korean populations of D.auraria A race are polymorphic with respect to the pigmentation of the abdominal tergites. The female shows two forms of color pattern, dark and light, on the sixth to the ninth tergites, and the male has no distinction shown by the female. Crossing experiments in the laboratory have shown that the difference between these color forms is due to a single pair of allelic genes located on an autosome. In natural populations, the light forms of females are always commoner than the dark one. The number of the light form increases relatively in southern localities and decreases relatively in northern localities. Furthermore, the number of the light form increases relatively in summer and decreases relatively in fall and spring. By genetic analyses of these wild flies, the relation, d/d>d/D>D/D has been disclosed as regards the relative frequencies of the genotypes in natural populations. Three experimental populations have been set up in the laboratory. Homozygous dark forms and homozygous light forms were mixed together and cultured in population cage at the temperature of 25 $^{\circ}C$. Approximately one year later, the frequencies of the light and the dark forms reached an equilibrium , the light one being usually more frequent than the dark one. This indicates that the heterozygous dark form possesses the highest adaptive value, the homozygous light being intermediate and the homozygous dark lowest. In number of adults hached, the homozygous light form was superior to the heterozygous dark form and the homozygous dark form, but the differences are scarcely significant.

• Journal of Genetic Medicine
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• 제14권2호
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• pp.62-66
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• 2017

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16 weeks of gestation for advanced maternal age. In the familial karyotype analyses for identification of der(7), the mother, the first daughter and the maternal grandmother showed the same der(7) as the fetus's. CBG-banding was positive at 7q22 region of der(7) that indicated inserted material was originated from heterochromatin. The origin of heterochromatic insertion region in der(7) of the fetus and the mother was found in Yq12 region by fluorescent in situ hybridization with a DYZ1 probe. In the specific analysis of Y chromosomal heterochromatic region of ins(7;Y) of the mother, 15 sequence tagged sites from Yp11.3 region including SRY to Yq11.223 region was not detected. Final karyotypes of the mother, the first daughter and the maternal grandmother were reported as 46,XX,der(7)ins(7;Y)(q21.3;q12q12). All female carriers of ins(7;Y) in the family showed normal phenotype and the mother and the maternal grandmother were fertile. A healthy girl was born at term. We report a rare case of familial interchromosomal insertion of Y chromosome heterochromatin detected only in female family members with normal phenotype that was diagnosed prenatally.

• Asian-Australasian Journal of Animal Sciences
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• 제23권10호
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• pp.1261-1267
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• 2010

Milk production traits are important economic traits for dairy cattle. The aim of the present study was to refine the position of previously detected quantitative trait loci (QTL) on bovine chromosome 6 affecting milk production traits in Chinese Holstein dairy cattle. A daughter design with 918 daughters from 8 elite sire families and 14 markers spanning the previously identified QTL region were used in the analysis. We employed a combined linkage and linkage disequilibrium analysis (LDLA) approach with two options for calculating the IBD probabilities, one was based on haplotypes of all 14 markers (named Method 1) and the other based on haplotypes with sliding windows of 5 markers (named Method 2). For milk fat yield, the two methods revealed a highly significant QTL located within a 6.5 cM interval (Method 1) and a 4.0 cM interval (Method 2), respectively. For milk protein yield, a highly significant QTL was detected within a 3.0 cM interval (Method 1) or a 2.5 cM interval (Method 2). These results confirmed the findings of our previous study and other studies, and greatly narrowed down the QTL positions.