• Title/Summary/Keyword: 염색체수

Search Result 798, Processing Time 0.036 seconds

Repetitive Pregnancy Loss in inv(22)(p13q12) Carrier

  • Kim, Do-Hoon;Ha, Jung-Sook;Rhee, Jeong-Ho
    • Journal of Genetic Medicine
    • /
    • v.7 no.1
    • /
    • pp.78-81
    • /
    • 2010
  • Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy loss. Pericentric inversion of chromosome 22 is rare and only a few cases have been reported. We report a case of inv(22)(p13q12) carrier who had history of repetitive pregnancy loss including three spontaneous abortions and one fetal hydrops in which the chromosomal complement was rec(22)dup(22q) inv(22)(p13q12)mat. The maternal inv(22) and fetal rec(22) were confirmed by fluorescence in situ hybridization using region-specific probes (TUPLE1 on 22q11.2 and ARSA on 22q13). Because the identification of inv(22) or rec(22) in conventional karyotyping might be easily overlooked, great attention and additional molecular tests are required for accurate diagnosis of inv(22) and rec(22).

Effects of Y Chromosome Microdeletion on the Outcome of in vitro Fertilization (남성 불임 환자에서 Y 염색체 미세 결손이 체외 수정 결과에 미치는 영향)

  • Choi, Noh-Mi;Yang, Kwang-Moon;Kang, Inn-Soo;Seo, Ju-Tae;Song, In-Ok;Park, Chan-Woo;Lee, Hyoung-Song;Lee, Hyun-Joo;Ahn, Ka-Young;Hahn, Ho-Suap;Lee, Hee-Jung;Kim, Na-Young;Yu, Seung-Youn
    • Clinical and Experimental Reproductive Medicine
    • /
    • v.34 no.1
    • /
    • pp.41-48
    • /
    • 2007
  • Objective: To determine whether the presence of Y-chromosome microdeletion affects the outcome of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) program. Methods: Fourteen couples with microdeletion in azoospermic factor (AZF)c region who attempted IVF/ICSI or cryopreserved and thawed embryo transfer cycles were enrolled. All of the men showed severe oligoasthenoteratoazoospermia (OATS) or azoospermia. As a control, 12 couples with OATS or azoospermia and having normal Y-chromosome were included. Both groups were divided into two subgroups by sperm source used in ICSI such as those who underwent testicular sperm extraction (TESE) and those used ejaculate sperm. We retrospectively analyzed our database in respect to the IVF outcomes. The outcome measures were mean number of good quality embryos, fertilization rates, implantation rates, $\beta$-hCG positive rates, early pregnancy loss and live birth rates. Results: Mean number of good quality embryos, implantation rates, $\beta$-hCG positive rates, early pregnancy loss rates and live birth rates were not significantly different between Y-chromosome microdeletion and control groups. But, fertilization rates in the Y-chromosome microdeletion group (61.1%) was significantly lower than that of control group (79.8%, p=0.003). Also, the subgroup underwent TESE and having AZFc microdeletion showed significantly lower fertilization rates (52.9%) than the subgroup underwent TESE and having normal Y-chromosome (79.5%, p=0.008). Otherwise, in the subgroups used ejaculate sperm, fertilization rates were showed tendency toward lower in couples having Y-chromosome microdeletion than couples with normal Y-chromosome. (65.5% versus 79.9%, p=0.082). But, there was no significance statistically. Conclusions: In IVF/ICSI cycles using TESE sperm, presence of V-chromosome microdeletion may adversely affect to fertilization ability of injected sperm. But, in cases of ejaculate sperm available for ICSI, IVF outcome was not affected by presence of Y-chromosome AZFc microdeletion. However, more larger scaled prospective study was needed to support our results.

Crossability and Chromosome Variation in the Early Generation of the Crosses between the Hexaploid Triticale and Diploid Rye (6배체 트리티케일 2배체 호밀과의 잡종 초기세대에서 교잡 친화성 및 염색체 변이)

  • 황종진;이홍석;하용웅
    • KOREAN JOURNAL OF CROP SCIENCE
    • /
    • v.36 no.6
    • /
    • pp.485-495
    • /
    • 1991
  • This experiment was carried out to obtain the information on the crossability, variation of chromosome number in pollen mother cell (PMC) and somatic cell of the progeny from the cross between hexaploid triticale cv. Sinkihomil and two diploid rye varieties. Seed set was 39.3 to 41.6% (averaged 40.5%) in the cross between triticale (P$_1$) and rye(P$_2$), which resulted in 0.33% in F$_2$(selfed F$_1$), 2.69% in F$_1$/P$_1$ 5.47% in F$_1$/P$_2$ respectively. However, seed set was extremely low in both reciprocal crosses when triticale was used as male. Germination rate of the crossed seed was 94.0% in F$_1$ 40.8% in F$_2$(selfed F$_1$), 59.5% in F$_1$/P$_1$ and 65.9% in F$_1$/P$_2$ from the cross between triticale and rye, respectively. Pollen fertility of F$_1$ plant was averaged 18.7% in the cross between triticale and rye. Number of Uni-, Bi-, and Trivalent in PMC was 12. 6, 6.94, and 0.53, respectively, in the F$_1$ between the triticale and rye. There were 28 chromosomes in F$_1$, 21 to 34 in F$_2$, 34 to 38 in F$_1$/P$_1$ and 19 to 23 in F$_1$/P$_2$ from the cross between the triticale and rye, respectively.

  • PDF

The 3rd Generation Genome Map of the Korean Cattle (Hanwoo) (제3세대 한우유전체지도작성)

  • Lee, Yong-Seok;Choi, In-Ho
    • Journal of Animal Science and Technology
    • /
    • v.51 no.2
    • /
    • pp.123-128
    • /
    • 2009
  • Recently, the $2^{nd}$ generation genome map of the Korean cattle (Hanwoo) has been constructed by comparison of the nucleotide sequence of the Korean cattle BAC clones with whole genome sequence of the bovine data-base (B_tau 2.1 build). The objective of this study was to update the $2^{nd}$ generation genome map of the Korean cattle using the similar approach. The nucleotide sequence of the Korean cattle BAC clones utilized in the construction of the $2^{nd}$ generation map was compared with the newly released bovine data-base (B_tau 3.1 build) to generate the $3^{rd}$ generation map. While, 5,105 BAC clones were localized on bovine chromosome in the $2^{nd}$ generation map, a total of 9,595 BAC clones, which spans about 37.27% of the bovine chromosome after eliminating the overlapping sequence among the clones, have been mapped on the bovine chromosome in the $3^{rd}$ generation map. Further analysis of the nucleotide sequence of the BAC clones will allow us to develop map and facilitate to pinpoint the genes that are important for the improvement of the performance in this cattle breed.

Karyotype and Reproductive Characteristics of the Diploid Brackish Water Clam, Corbicula japonica and the Triploid Freshwater Marsh Clam, C. fluminea (2배체 기수산 일본재첩 Corbicula japonica와 3배체 담수산 재첩 C. fluminea의 핵형분석 및 번식 특성)

  • Choi, Ki-Ho;Chung, Ee-Yung;Kwak, Oh-Yeol
    • The Korean Journal of Malacology
    • /
    • v.23 no.1
    • /
    • pp.39-49
    • /
    • 2007
  • We investigated to understand the differences in the karyotypes and the reproductive characteristics between the diploid clam, Corbicula japonica in the brackish water and the triploid clam, C. fluminea in the freshwater. The number of chromosomes of the diploid C. japonica were 38, which can be grouped into 19 pairs of two homologues. These can be divided into 11 pairs of telocentric, 4 pairs of subtelocentric, 3 pairs of submetacentric and one pair of metacentric chromosomes. C. japonica is oviparous and dioecious. The clam has two pairs of gills, with the inner and outer-demibranchs, however, they do not act mainly as marsupia. External fertilization occurs in the brackish water. The triploid marsh clam, C. fluminea has 54 chromosomes, which can be grouped into 18 sets of three homologues. These 18 sets can be divided into one metacentric group, five submetacentric groups and 12 subtelo- or telocentric groups. C. fluminea is ovoviviparous and functional hermaphrodite. The triploid condition may be closely related to hermaphroditism. This species has the inner-demibranchs acting mainly as marsupia. The depletion of ripe eggs occurred in the inner-demibranchs of the gill during the incubatory periods, and ripe eggs produced in the hermaphroditic follicles in the gonad during the non-incubatory periods. The gonad developmental stages of two marsh clams (C. japonica and C. fluminea) can be divided into five stages: early active stage, late active stage, ripe stage, partially spawned stages, and spent/inactive stage.

  • PDF

Compact elitist Ant Optimization (콤팩트 엘리트 개미 최적화)

  • Cho, Jin-Sun;Chang, Hyeong-Soo
    • Proceedings of the Korean Information Science Society Conference
    • /
    • 2008.06c
    • /
    • pp.365-370
    • /
    • 2008
  • 본 논문에서는 개미 집단 최적화(Ant Colony Optimization, ACO)의 시간적 공간적 효율성을 향상시키기 위해 ACO에 엘리트 콤팩트 유전 알고리즘(Elitist compact Genetic Algorithms, elitist cGAs)의 아이디어를 적용한 콤팩트 개미 최적화(Compact elitist Ant Optimization, CAO)를 제안한다. CAO는 elitist cGAs에서 각 세대마다 염색체의 수를 둘로 고정하고 우월한 염색체를 유지하여 최적의 해를 찾는 방식을 적용하여 개미의 수를 하나로 고정하고 전이 확률식과 페로몬 갱신 규칙을 변형하고 특정 문제에 적용할 수 있는 타부 규칙을 추가한 알고리즘이다. 이 알고리즘의 공간 효율성이 ACO보다 좋다는 것을 증명하고 스테이너 트리 문제(Steiner Tree Problem)에 적용하여 제안된 알고리즘의 시간 효율성이 ACO보다 좋다는 것을 보인다.

  • PDF

Induction of Radiation Adaptive Response in Lymphocytes of patients Undergoing Bone Scintigraphy (골 신티그라피를 시행한 환자의 림프구에서 방사선 적응반응의 유도에 관한 연구)

  • Min, Jung-Jun;Bom, Hee-Seung
    • The Korean Journal of Nuclear Medicine
    • /
    • v.33 no.2
    • /
    • pp.172-177
    • /
    • 1999
  • Purpose: The purpose of this study was to ascertain whether radiation adaptive response could be induced by Tc-99m-methylene diphosphonate (Tc-99m-MDP) in peripheral lymphocytes of patients undergoing bone scintigraphy. Materials and Methods: Lymphocytes from 22 patients (6 males, 16 females, mean age $50{\pm}14$ years) were collected before and after bone scintigraphy using 740 MBq Tc-99m-MDP Lymphocytes from 10 controls (6 males, 4 females, mean age $43{\pm}7$ years) were also collected. They were exposed to challenge dose of 2 Gy gamma rays using a cell irradiator. Number of ring-form and dicentric chromosomes per 600 cells (chromosomal aberrations) was counted under the light microscope. Results: Chromosomal aberrations in patients before bone scintigraphy ($385.1{\pm}30.5$) was not different from that of controls ($367.8{\pm}36.6$). However, chromosomal aberrations in patients after bone scintigraphy was significantly decreased to $192.6{\pm}22.1$ (p=0.0001). Conclusion: Low dose gamma-irradiation by Tc-99m-MDP used for bone scintigraphy induces a cytogenetic adaptive response in peripheral lymphocytes.

  • PDF

Taxonomy of the Allium sect. Sacculiferum in Korea: with a special reference to the morphology (한국산 부추속(Allium) 산부추절(sect. Sacculiferum)의 분류: 형태학적 형질을 중심으로)

  • Choi, Hyeok-Jae;Oh, Byoung-Un
    • Korean Journal of Plant Taxonomy
    • /
    • v.33 no.4
    • /
    • pp.339-357
    • /
    • 2003
  • The general morphological characters and chromosome numbers about 7 taxa of Korean Allium sect. Sacculiferum were reviewed. From the results, authors elucidated the key character as well as the range of variations in each taxon, and considered the relationships among taxa in this section. Clear taxonomic treatments also carried out based on the type specimens and the original descriptions. Shape and growing pattern of leaves, size of inflorescences, shape of perianths and tepals, as well as chromosome numbers were key characters in identifying the taxa and in estimating their relationships. On the basis of these characters, A. thunbergii var. thunbergii, A. sacculiferum and A. deltoide-fistulosum were recognised as a distinct species respectively. Hal-la-bu-chu which had been misidentified as A. cyaneum (sect. Reticulato-bulbosa) in Korea was proved to be A. taquetii and belonged to the sect. Sacculi/erum. In addition, A. cyaneum var. deltoides, had been described as a variety of A. cyaneum, was recombined as a variety of A. thunbergii [A. thunbergii var. deltoides (S. Yu, W. Lee et S. Lee) H. J. Choi et B. U. Oh] with the new Korean name of 'Se-mo-san-bu-chu'. In conclusion, Korean sect. Sacculiferum was composed of five species and two varieties. A key to identify the taxa in this section was provided.