• Journal of Genetic Medicine
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• v.7 no.1
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• pp.59-66
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• 2010

Purpose: Quantitative fluorescent polymerase chain reaction (QF-PCR) allows for the rapid prenatal diagnosis of common aneuploidies. The main advantages of this assay are its low cost, speed, and automation, allowing for large-scale application. However, despite these advantages, it is not a routine method for prenatal aneuploidy screening in Korea. Our objective in the present study was to validate the performance of QF-PCR using short tandem repeat (STR) markers in a Korean population as a means for rapid prenatal diagnosis. Material and Methods: A QF-PCR assay using an Elucigene kit (Gen-Probe, Abingdon, UK), containing 20 STR markers located on chromosomes 13, 18, 21, X and Y, was performed on 847 amniotic fluid (AF) samples for prenatal aneuploidy screening referred for prenatal aneuploidy screening from 2007 to 2009. The results were then compared to those obtained using conventional cytogenetic analysis. To evaluate the informativity of STR markers, the heterozygosity index of each marker was determined in all the samples. Results: Three autosomes (13, 18, and 21) and X and Y chromosome aneuploidies were detected in 19 cases (2.2%, 19/847) after QF-PCR analysis of the 847 AF samples. Their results are identical to those of conventional cytogenetic analysis, with 100% positive predictive value. However, after cytogenetic analysis, 7 cases (0.8%, 7/847) were found to have 5 balanced and 2 unbalanced chromosomal abnormalities that were not detected by QF-PCR. The STR markers had a slightly low heterozygosity index (average: 0.76) compared to those reported in Caucasians (average: 0.80). Submicroscopic duplication of D13S634 marker, which might be a unique finding in Koreans, was detected in 1.4% (12/847) of the samples in the present study. Conclusion: A QF-PCR assay for prenatal aneuploidy screening was validated in our institution and proved to be efficient and reliable. However, we suggest that each laboratory must perform an independent validation test for each STR marker in order to develop interpretation guidelines of the results and must integrate QF-PCR into the routine cytogenetic laboratory workflow.

• Journal of Animal Science and Technology
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• v.49 no.1
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• pp.1-8
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• 2007

This study was focused on discriminating the molecular sexes of red deer and elk by duplex polymerase chain reaction(PCR) using two primer sets. Sex differentiation of mammals is primarily dependent on the presence or absence of sex determining region Y(SRY) gene encoded on Y chromosome which plays a key role for male development. Zinc finger X-Y(ZFX-ZFY) gene, one of X-Y homology gene group was found on X- and Y- chromosomes, respectively. At first, the nucleotide sequences were characterized for the intron 9 flanking region of ZFX-ZFY genes. The intron 9 of ZFX and ZFY is 529-bp and 665-bp in length, respectively. A transposable element sequence similar to bovine SINE element Bov-tA was detected only in ZFY gene of Cervidae. Sexing analysis was conducted by duplex PCR assay for amplification of SRY and ZFX-ZFY genes. Two differentially amplified patterns were found: one for females has a common band amplified only from ZFX as a template, and another for males had three bands(a common ZFX and two male-specific ZFY and SRY). On the separate tests using each gene, the results was identical to those from duplex PCR assay. Moreover, the results from PCR assays provide also identical information to phenotypic investigation of individuals of red deer, elk as well as their hybridized progenies collected from two isolated farms. These results suggest that it may be a rapid and precise method for determining the sexes by duplex PCR amplification using Y-chromosome specific SRY and X- and Y- homologous ZFX-ZFY genes showing sexual dimorphism in red deer and elk without any other controls.

• Korean Journal of Plant Taxonomy
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• v.39 no.1
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• pp.24-28
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• 2009

The chromosome morphology of two Korean Lactuca (L. indica, L. triangulata) is reported herein. The chromosome number and karyotype of a naturalized plant, L. scariola are reported for the first time. The basic chromosome number was x = 9. Polyploid forms were not recorded. The karyotypes of L. indica, L. scariola, and L. triangulata were 2 n = 18 = 2 m+ 7 sm, 2 n = 18 = 1 m + 6 sm+ 2 st, 2 n = 18 = 2 m + 5 sm+ 2 st, respectively. Both L. indica and L. triangulata had satellites at the ends of their short arms. The haploid genome lengths of L. indica, L.scariola, and L. triangulata were $56.3{\mu}m$, $35.3{\mu}m$, and $72.5{\mu}m$ respectively. Each chromosome length of naturalized L. scariola was $2.7-5.2{\mu}m$; the smallest among Korean Lactuca. The chromosome lengths of L. indica and L. triangulata were $4.7-7.6{\mu}m$ and $2.9-7.9{\mu}m$, respectively. The karyotype of L. scariola differed from that of L.indica and L.triangulata both of which belong to sect. Tuberosae. Therefore, L. scariola is thought to belong to sect. Lactuca subsect. Lactuca.

• Korean Journal of Plant Taxonomy
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• v.39 no.4
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• pp.247-253
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• 2009

Somatic chromosome numbers for 20 taxa of Korean Artemisia L. were investigated for the purpose of classification. Somatic chromosome numbers of treated taxa were 2n = 16, 18, 34, 36, 50, 52, 54, and therefore their basic chromosome numbers were x = 8, 9, 10, 13, 17. The chromosome number of A. japonica var. angustissima is being reported for the first time in this study. The chromosome numbers of 13 taxa were the same as in previous reports; A. capillaris (2n = 18), A. japonica var. hallaisanensis (2n = 36), A. japonica subsp. littoricola (2n = 36), A. annua (2n = 18), A. carvifolia (2n = 18), A. fukudo (2n = 16), A. keiskeana (2n = 18), A. stolonifera (2n = 36), A. sylvatica(2n = 16), A. selengensis (2n = 36), A. montana (2n = 52), A. lancea (2n = 16), A. sieversiana (2n = 18); however, the chromosome numbers of 6 taxa were different; A. japonica var. japonica (2n = 18, 36 vs 2n = 36), A. sacrorum (2n = 18, 54 vs 2n = 54), A. rubripes (2n = 16, 34 vs 2n = 16), A. indica (2n = 34, 36 vs 2n = 34), A. codonocephala (2n = 18, 50, 54 vs 2n = 50), A. argyi (2n = 34, 36, 50 vs 2n =34). The somatic chromosome numbers of Korean Artemisia are thought to be good characteristics for classifying some taxa such as A. japonica var. japonica, A. sacrorum, A. codonocephala, A. argyi, A. montana, A. sylvatica.

• The Science & Technology
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• no.5 s.432
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• pp.40-43
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• 2005

• Clinical and Experimental Reproductive Medicine
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• v.33 no.3
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• pp.179-187
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• 2006

Objectives: The risk of aneuploidies of embryos increases in advanced maternal age or parental karyotype abnormality and it results in poor reproductive outcomes such as recurrent spontaneous abortion (RSA) or repeated implantation failure (RIF). Preimplantation genetic diagnosis for aneuploidy screening (PGD-AS) can be applied for better ART outcome by selecting chromosomally normal embryos. The aim of this study is to evaluate the clinical outcome of PGD-AS and which group can get much benefit from PGD-AS among the patients expected to have poor reproductive outcome. Methods: In 42 patients, 77 PGD cycles were performed for aneuploidy screening. Patients were allocated to 3 groups according to the indication of PGD-AS: group I-patients with old age (${\geq}37$) and RIF more than 3 times (n=11, mean age=42.2 yrs.), group II-patients with RSA (${\geq}3$ times) associated with aneuploid pregnancy (n=19, mean age=38.9 yrs.), group III-parental sex chromosome abnormality or mosaicism (n=18, mean age=29.6 yrs.) including Turner syndrome, Klinefelter syndrome and 47, XYY. PGD was performed by using FISH for chromosome 13, 16, 18, 21, X and Y in group I and II, and chromosome X, Y and 18 (or 17) in group III. Results: Blastomere biopsy was successful in 530 embryos and FISH efficiency was 92.3%. The proportions of transferable embryos in each group were $32.5{\pm}17.5%$, $23.0{\pm}21.7%$ and $52.6{\pm}29.2%$ (mean ${\pm}$ SD), respectively, showing higher normal rate in group III (group II vs. III, p<0.05). The numbers of transferred embryos in each group were $3.9{\pm}1.5$, $1.9{\pm}1.1$ and $3.1{\pm}1.4$ (mean ${\pm}$ SD), respectively. The clinical pregnancy rates per transfer was 0%, 30.0% and 20.0%, and it was significantly higher in group II (group I vs. group II, p<0.05). The overall pregnancy rate per transfer was 19.6% (10/51) and the spontaneous abortion rate was 20% (2/10) of which karyotypes were euploid. Nine healthy babies (one twin pregnancy) were born with normal karyotype confirmed on amniocentesis. Conclusion: Our data suggests that PGD-AS provides advantages in patients with RSA associated with aneuploidy or sex chromosome abnormality, decreasing abortion rate and increasing ongoing pregnancy rate. It is not likely to be beneficial in RIF group due to other detrimental factors involved in implantation.

• Clinical and Experimental Reproductive Medicine
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• v.34 no.3
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• pp.179-188
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• 2007

Objectives: Many neurological diseases are known to be caused by expansion of trinucleotide repeats (TNRs). It is hard to diagnose the alteration of TNRs with single cell level for preimplantation genetic diagnosis (PGD). In this study, we describe methods optimized for PGD of TNRs related diseases such as Huntington's disease (HD), spinocerebellar ataxia 3 (SCA3) and fragile X syndrome (FXS). Methods: We performed the preclinical assays with heterozygous patient's lymphocytes by single cell PCR strategy. Fluorescent semi-nested PCR and fragment analysis using automatic genetic analyzer were applied for HD and SCA 3. Whole genome amplification with multiple displacement amplification (MDA) method and fluorescent PCR were carried out for FXS. Amplification and allele drop-out (ADO) rate were evaluated in each case. Results: The fluorescent semi-nested PCR of single lymphocyte showed 100.0% of amplification and 14.0% of ADO rate in HD, and 94.7% of amplification and 5.6% of ADO rate in SCA3, respectively. We could not detect the PCR product of CGG repeats in FXS using the fluorescent semi-nested PCR alone. After applying the MDA method in FXS, 84.2% of amplification and 31.3% of ADO rate were achieved. Conclusions: Fluorescent semi-nested PCR is a reliable method for PGD of HD and SCA3. The advanced MDA method overcomes the problem of amplification failure in CGG repeats of FXS case. Optimization of methods for single cell analysis could improve the sensitivity and reliability of PGD for complicated single gene disorders of TNRs.

• Journal of the Korean Society of Food Science and Nutrition
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• v.43 no.10
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• pp.1588-1593
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• 2014

This study evaluated the genotoxic effects of 30 kGy of X-ray irradiation to four foods (chicken, egg powder, dried green onion, and black pepper). In bacterial reversion assay with Salmonella Typhimurium TA98, TA100, TA1535, and TA1537, the X-ray irradiated foods did not show a significantly increased number of revertant colonies in the presence or absence of the S9 metabolic activation system. In chromosomal aberration tests with Chinese hamster ovary (CHO) cells, the X-ray irradiated foods showed no increase in the frequency of chromosomal aberrations. In in vivo mouse micronucleus assay, the X-ray irradiated foods did not show any increase in the frequency of polychromatic erythrocytes with micronuclei. These results indicate that 30 kGy of X-ray irradiation to four foods (chicken, egg powder, dried green onion, and black pepper) showed no genotoxic effects under these experimental conditions.

• Korean Journal of Plant Taxonomy
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• v.35 no.2
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• pp.143-151
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• 2005

Cytological characteristics of Abeliophyllum distichum (Oleaceae), endemic to Korea, was examined. Somatic chromosome numbers was 2n = 28 which corresponds to diploid based on x=14. Chromosome length was varied continuously from $1.00{\mu}m$ to $2.03{\mu}m$. Karyotype of Abeliophyllum distichum was investigated in this study for the first time. The cytological characteristics including basic chromosome number, continuous variation of chromosome length, diploid and karyotype were similar to those of the genus Forsythia, which indicated the close relationship between Abeliophyllum and Forsythia, and consequently the two genera seemed to be included to same tribe.

• Korean Journal of Plant Taxonomy
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• v.40 no.3
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• pp.169-173
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• 2010

Sparganium fallax Graebn. (Sparganiaceae), a species previously unrecorded for the Korean flora, was collected in a broad-leaved, evergreen swamp in the lowlands of eastern Jeju Island. This species was known to be distributed south of Jeju Island including Japan, South China, Taiwan, India, Indonesia (Sumatra), Myanmar, and New Guinea. S. fallax differ from others of Sparganiaceae in Korea by having keeled leaves, 4-7 staminate heads, relatively wide separation between each pistillate head and usually sessile or lowest pedunculated pistillate heads. The somatic chromosome number was 2n = 2x = 30 and the size of chromosomes was very small (0.69 to $2.19{\mu}m$).