• Journal of Genetic Medicine
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• v.5 no.1
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• pp.47-54
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• 2008

Purpose : Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells offers the opportunity for rapid screening of aneuploidies and has become an integral part of the current practice in many clinical cytogenetics laboratories. Here, we retrospectively analyzed the results of interphase FISH in 943 amniotic fluid samples and assessed the efficiency of FISH for rapid detection of aneuploidies. Methods : Interphase FISH for chromosome 13, 18, and 21 was performed in 943 consecutive amniotic fluid samples for rapid diagnosis of aneuploidies referred from 2004 to 2006. Karyotypes from standard cytogenetic analysis were compared to the FISH results. Results : A total of 45 chromosomal rearrangements (4.8%) were found after conventional cytogenetic analysis of the 943 amniotic fluid. After exclusion of known familiar chromosomal rearrangements and inversions (2.1%, 20/943), 2.7% (25/943) were found to have chromosomal abnormalities. Of this group, 0.7% (6/943) were chromosomal abnormalities not detectable by FISH and 2.0% (19/943) were numerical abnormalities detectable by FISH. All 14 cases of Down syndrome (Classic type, 13 cases; Robertsonian type, 1 case) and 5 cases of trisomy 18 were diagnosed and detected by FISH and there were no false-positive or -negative results (specificity and sensitivity=100%). Conclusion : The present study demonstrates that FISH can provide a rapid and sensitive clinical method for prenatal identification of chromosome aneuploidies. However, careful genetic counseling is essential to explain the limitations of FISH, including the inability to detect all chromosomal abnormalities and the possibilities of uninformative or false-negative results in some cases.

• Childhood Kidney Diseases
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• v.7 no.1
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• pp.52-59
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• 2003

Purpose : The renin-angiotensin system(RAS) plays an important role in renal growth and development. We have studied the prevalence of renal anomalies and documented the association between karyotype and renal anomalies using IVP and ultrasonography. Furthermore, to investigate the impact of RAS gene polymorphism on renal anomaly in Turner syndrome, we examined the ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C. Methods : Cytogenetic analysis was performed in 33 Turner syndrome patients on peripheral blood lymphocytes. Ultrasonography(US) of the kidneys and collecting system and intravenous pyelography(IVP) were perfomed in all patients. Nuclear scintigraphy{Tc 99m dimercaptosuccinic acid(DMSA) scan} was also performed for the definite renal diagnosis if indicated. And, ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C were examined by PCR amplification of genomic DNA samples. Results : The prevalence of renal anolmalies in Turner syndrome was 36.4%(12/33). The Karyotype 45, X was observed in 18 of the 33 girls(54.5%), of whom 8(44.4%) had renal anomalies. Mosaic karyotypes were observed in 11(33.3%) and four(12.2%) had a non-mosaic structural aberration of the X chromosome. In this group 4(25.7%) had renal anomalies. More renal anomalies were associated with the 45, X karyotype than those with mosaic/structural abnormalities of X chromosome, but the difference was not statistically significant(P>0.05). And, there was no significant differences in the RAS gene polymorphism and allele frequencies between renal anomaly group and normal group in Turner syndrome. Conclusion : The prevalence of renal anolmalies in Turner syndrome was 36.4%. There is no significant differences in the RAS gene polymorphism and allele frequencies between the renal anomaly group and the normal group in Turner syndrome.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.5 no.2
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• pp.141-149
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• 2004

The aim of this study was to test the validity of the hypothesis that the karyotypes of four species of Lepilemuridae were formed spontaneously from their ancestral hybrid karyotype. Hypothetical ancestral haploid Karyotype of Lepilemuridae is composed of 18 autosomes and X chromosomes. Lepilemur mustelinus karyotype has four tandem fused chromosomes and one Robertsonian translocated chromosome pairs. Lepilemur septentrionalis septentrionalis karyotype has only two pairs of translocated chromosomes. We reconstruct and suggest ancestral karyotype of LMU(ancLMU) and LSS(ancLSS), from which all four studied species were derived. Hybrids of ancLMU and ancLSS were formed and produce differently fused equilibrated gametes via circular form arrangement during gametogenesis. Five unit of trivalent homologous chromosome pairs were engaged in a circular form to give new gamete corresponding to the karyotype of L. dorsalis, orientation of one unit of trivalent was inversed in the circle to gave new gamete corresponding to the karyotype of L. leucopus. Seven homologous chromosome pairs were engaged in circular form to give haploid karyotype of Lepilemur ruficaudatus. Only one homologous chromosome pair is dissociated and the other chromosome pairs rearranged in the circle to form haploid karyotype of Lepilemur edwardsi. The new gametes could be produced from these circular forms. When the new gamete fertilized with the same type of gamete, The new homozygote is produced as existing L. dorsalis, L. leucopus, L. edwardsi and L. ruficaudatus. These results support the theory that new species could be formed in hybrid population through activated chromosome fusion, chromosome rearrangement in circular from at zygotene stage and production of equilibrated gametes to form homozygote new species.

• Korean Journal of Environment and Ecology
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• v.22 no.1
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• pp.18-34
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• 2008

Based on external morphology, each of five species can be classified into three groups: 1) B. falcatum group (B. falcatum, B. scorzonerifolium), 2) B. euphorbioides group (B. euphorbioides) and 3) B. longiradiatum group (B. longiradiatum, B. latissimum). B. falcatum group has cauline leaves linear or lanceolate in shape and attenuate at base and not surrounding the stem. In contrast, B. longiradiatum group and B. euphorbioides group have cauline leaves ovate, lanceolate or panduriform in shape and auriculate or cordate at base and completely surrounding the stem. The inflorescence is basically compound umbels terminated at the apex of stem. But B. euphorbioides group is small in size and pedicels are rather short and the number of the pedicel is ca. 20. On the other hand, B. longiradiatum and B. falcatum groups are large in size and their pedicels are long and the number of the pedicel is around 10. The pore of pollen aperture of B. longiradiatum and B. latissimum is partially projected or not while those of B. falcatum group and B. euphorbioides is usually remarkably projected. The number of somatic chromosomes was counted as 2n=20 in B. falcatum, 2n=12 in B. scorzonerifolium and B. longiradiatum, and 2n=16 in B. euphorbioides and B. latissimum. Although chromosome numbers of B. euphorbioides and B. latissimum are the same, the two species are not likely to relate because the karyotypes of the two species are different from each other. Based on these observations, it can be concluded that B. latissimum is most closely related to B. longiradiatum. However, molecular data indicated that the species is probably related to B. bicaule distributed in central Siberia. In terms of conservation of B. latissimum, overexploitation by human and grazing by goat are most threatened factors.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.44-52
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• 2011

Purpose: Cytogenetic analysis of spontaneous abortions (SABs) provides valuable information to establish the causes of fetal loss, information that is essential to provide accurate reproductive and genetic counseling couples. Such analysis also provides information on the frequencies and types of chromosomal abnormalities and associated risks of recurrence. However, there have only been a few reports of chromosomal abnormalities in small samples of SABs in the Korean population. Here, we report the incidence and spectrum of chromosomal abnormalities for cases of 470 SAB in Korea. Material and Methods: Between 2005 and 2010, a total of 470 products of conception (POC) resulting from SABs were submitted to our laboratory for cytogenetic analysis from various medical sites in Korea. The incidences and types of specific chromosomal abnormalities were determined. The abnormalities were distinguished by gestational age at the time of SAB and by maternal age. Results: The frequency of chromosomal abnormalities in POCs was 54.3% (255/470), including 228 (89.3%) numerical and 27 (10.7%: 3 balanced and 24 unbalanced) structural abnormalities. Among the numerical abnormalities, trisomy was predominant (67.0%), followed by monosomy X (12.5%), polyploidy (8.2%), triple X (0.8%), and autosomal monosomy (0.8%). The overall sex ratio (male: female) among the 470 POCs with normal and abnormal karyotypes were 0.58 and 0.65, respectively. Trisomies were identified for each autosome, with the exceptions of 1, 3, and 19. Among the 171 autosomal trisomies, trisomy 16 was the most common (19.9%), followed by trisomy 22 (13.5%), trisomy 21 (12.3 %), trisomy 15 (9.9%), and trisomies 18 and 13 (5.3%). The frequency of chromosomal abnormalities decreased with gestational age and increased with maternal age, but only because of increases in trisomies and complex abnormalities. Conclusions: We have presented a large collection of cytogenetic data for SABs collected during the past 6 years and provided a database for prenatal genetic counseling of parents who have experienced SABs in Korea.

• 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.

• The Korean Journal of Malacology
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• v.1 no.1
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• pp.24-50
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• 1985

Five different populations of Parafossarulus manchouricus (Chongpyung, Chinju and Kunsan, Korea; and Japan and Taiwan), a population of Bitbynia (Gabbia) misella (Gongju, Korea) and two different populations of Bithynta tentaculata (Michigan, U.S.A. and Bodensee, Germany) were compared in regard to eff-laying characteristics, morphology, chromosome cytology, natural infections of parasites and ecology of habitats. A satisfactory culture method was devised for laboratory rearing of the snails. Tropical fish food (Terra SML) and powdered green leaves (Ceralife) were used as the main food sources for the snails. Benthic diatoms such as Navicula and Gomphonema from the periphyton were also essential for satisfactory growth, especially for the baby snails. The aquaria were stabilized with small stones from a local stream. Young P. manchouricus snails grew to adult size in about 54 days after hatching. They laid eggs 150-156 days after hatching. The whole cycle (birth to egg-laying) took approximately 5 months. The three species of bithyniid snails are iteroparous and lay eggs once a year. There were no major morphological differences in the shells of genera or subgenera studied here. They did exhibit the following rather minor differences. The shell of Parafossarulus has spirally raised ridges, and its apex is usually eroded; the other two genera lack these characteristics. The shell of B. (Gabbia) misella is small, nor exceeding 7.5 mm in length, while the shells of the other two species are larger, being more than 10 mm in length. Scanning electron microscopy (SEM) of the protoconch of P. manchouricus reveals nearly smooth sculpture with small, low, spiral wrinkles. This sculpture is quite different from that of the Hydrobiidae, a family to which the bithyniids are frequently assigned. Scanning electron microscopy of the radulae of the three bithyniid species showed that their radular morphologies are very similar, but there are some small differences, which may be species-specific. There were some statistical differences in shell heights between the Korean and the other populations of P. manchouricus, and between this species and the other two bithyniids as well. The shell differences between the several populations of Korean P. manchouricus may be related to environment. Edtails of the chromosome cycle of these bithyniid snails are similar to those reported for other snails. No specific differences were observed in the chromosome cycle between the various species and populations of snails employed in this study. Reporred for the first time in molluscs are two darkly stained "nucleolar organizers" during pachyterne stages of meiosis. Two different chromosome numbers were observed in the three bithyniid species: n=17 in B. tentaculata and P. manchouricus, and n=18 in B. (G.) misella. no sex chromosomes or supernumerary chromosomes were seen. There were no morphological differences in karyotypes of three Korean strains of P. manchouricus. The infection rates of cercariae of Clonorchis sinensis in Chinju and Kunsan strains of P. manchouricus were 0.14% and 1.25%, respectively. However, Clonorchis cercariae were found in Chongpyung strain of P. manchouriceu and Gongju strain of B. (G.) misella. The habitats of P. manchouricus around Jinyang Lake were relatively clean without any heavy pollution of aquatic microorganisms and organic materials during the period of this study. The levels of dissolved oxygen (D.O.) and biochemical oxygen demand (B.O.D.) of the water specimens sampled from the study areas ranged from 6.0 to 9.6 ppm and from 0.4 to 1.6 ppm, respectively. Eight metalic constituents from the water samples were also assayed, and all metalic ions detercted were remarkably low below the legal criteria. However, calcium ion in the water samples from the habitats of P. manchouricus was considerably higher than others.