• 제목/요약/키워드: Chromosome 4

검색결과 1,089건 처리시간 0.029초

Clinico-Epidemiological Profile of Patients with Polycythaemia Rubra Vera - a Five Year Experience from a Tertiary Care Center

  • Sultan, Sadia;Irfan, Syed Mohammed;Murad, Sania
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권3호
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    • pp.1531-1533
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    • 2016
  • Background: Polycythaemia rubra vera (PV) is a Philadelphia chromosome negative myeloproliferative neoplasm characterized by increased red cell production, independent of the mechanisms that regulate normal erythropoiesis. The aim of this study was to analyze the clinico-epidemiological profile of Pakistani patients with PV. Materials and Methods: In this retrospective cross sectional study, 26 patients with PV were enrolled from January 2010 to December 2014. They were diagnosed based on WHO criteria. Results: The mean age was $53.4{\pm}9.31years$ (range 36-72) and the male to female ratio was 2:1. Overall 30.7% of patients were asymptomatic. In symptomatic patients, major complaints were headache (30.8%), abdominal discomfort (23.1%), blurred vision (15.3%), pruritus (11.5%) and vascular incidents (11.5%). Physical examination revealed plethoric face and splenomegaly as predominant findings, detected in 34.6% and 30.7%, respectively, with the mean splenic span of $15.9{\pm}2.04cm$. The mean hemoglobin was $18.1{\pm}1.9g/dl$ with the mean hematocrit of $55.6{\pm}8.3%$. The mean total leukocyte count was $12.8{\pm}7.1{\times}10^9/l$ and the platelet count $511{\pm}341.9{\times}10^9/l$. Mean erythrocyte sedimentation rate was $3.5{\pm}1.22mm/hr$. Serum lactate dehydrogenase, serum creatinine and uric acid were $552.7{\pm}309.2$, $0.8{\pm}0.17$ and $6.60{\pm}1.89$ respectively. Conclusions: PV in Pakistani patients, unlike in the West, is seen in a moderately young population. The disease is frequently seen in male gender and primarily patients present with symptoms related to hyperviscosity.

Characterization of a QTL associated with chlorophyll content using progeny from an interspecific cross in rice (Oryza Sativa L.)

  • Shim, Kyu-Chan;Luong, Ngoc Ha;Kim, Sun Ha;Jeon, Yun-A;Lu, Xin;Ahn, Sang-Nag
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
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    • pp.23-23
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    • 2017
  • Rice (Oryza sativa L.) is the world's most important cereal crop. In crop plant, chlorophyll content and leaf senescence could affect grain filling and yield. We analyzed a QTL associated with chlorophyll content and delayed leaf senescence using high chlorophyll near isogenic line (HC-NIL). HC-NIL derived from a cross between Oryza sativa cv. Hwaseong as a recurrent parent and wild species O. grandiglumis as a donor parent showed higher chlorophyll content than Hwaseong. To identify QTL associated with chlorophyll content, 58 $F_3$ and 38 $F_4$ lines were developed from a cross between HC-NIL and Hwaseong. For QTL analysis, simple sequence repeat (SSR) markers were used for genotyping and one-way ANOVA was conducted. A QTL for chlorophyll content (qCC2) was detected in chromosome 2 and explained 24.63% of phenotypic variation. The senescence effect of the qCC2 was examined in dark-induced incubation (DII). Detached leaves from Hwaseong and HC-NIL were incubated on 3mM MES buffer (pH 5.8) at $27^{\circ}C$ under complete dark condition. After 3 days of incubation, the Hwaseong leaves turned yellow, but the HC-NIL leaves were green. HC-NIL has higher chlorophyll content with delayed senescence than Hwaseong. These results indicated that qCC2 is associated with stay-green phenotype. To know whether the qCC2 is responsible for leaf functionality, ion leakage test and Fv/Fm measurement were performed. Both experiment results showed that differences were observed between Hwaseong and HC-NIL but it was not statistically significant. These results might suggest that the qCC2 is possibly related to chlorophyll content and non-functional stay-green phenotype.

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한반도에 자생하는 돌뽕나무(Morus tiliaefolia Makino)의 형태학적 특성 (The Morphological Characteristics of Morus tiliaefolia Makino Growing Wild in the Korean Peninsula)

  • 박광준
    • 한국잠사곤충학회지
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    • 제44권1호
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    • pp.13-18
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    • 2002
  • 한반도에 자생하는 돌뽕나무를 수집하여 그 형태학적 특성을 조사한 결과는 다음과 같다 1.체세포의 염색체수는 2n=84인 6배체이다. 2.웅화수는 3.6~6.0cm의 긴 원통형이고 무화주인 자화수의 길이는 18 mm로 왜소하고 자 색 또는 자홍색의 오디는 1.39~l .65 g이다. 3. 동동아는 가지에 비하여 매우 크고 부아는 존재하지 않는다. 4. 잎은 대형의 열엽 또는 전연엽이며, 피목 밀도는 9.42$\pm$1.29개/$\textrm{cm}^2$이다. 5. 잎의 모용 길이는 236~438$\mu\textrm{m}$이고, 이면에 밀도가높은 바 16~37개/25 $\textrm{mm}^2$분포한다. 6. 잎의 표면의 모용형태는 원추형, 이면의 것은 매우 세장한 원추형이다

QTL Identification Using Combined Linkage and Linkage Disequilibrium Mapping for Milk Production Traits on BTA6 in Chinese Holstein Population

  • Hu, F.;Liu, J.F.;Zeng, Z.B.;Ding, X.D.;Yin, C.C.;Gong, Y.Z.;Zhang, Q.
    • 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.

Establishment and Characterization of the Fibroblast Line from Silkie Bantam

  • Li, L.F.;Guan, W.J.;Li, H.;Bai, X.J.;Ma, Y.H.
    • Asian-Australasian Journal of Animal Sciences
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    • 제22권4호
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    • pp.492-499
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    • 2009
  • A Silkie Bantam embryo fibroblast line (named SBF59 line) was successfully established by using direct explant culture and cryopreservation techniques. Cell morphology, viability, dynamic growth and contamination were tested and the karyotype and levels of isoenzymes of lactic dehydrogenase and malic dehydrogenase were analyzed. Four kinds of fluorescent protein extrogenes, including $pEGFP-N_3$, $pECFP-N_1$, $pEYFP-N_1$ and $pDsRed1-N_1$ were transfected into the cells. The results showed that the cells were healthy and possessed a fibrous structure without a change in morphology. The average viability of the cells was 96% before freezing and 90.5% after thawing. The growth curve appeared as typical "S" shape and the cell growth passed through a detention phase, a logarithmic phase and a platform phase; the estimated population doubling time (PDT) was 38.5 h; assays for the presence of bacteria, fungi, viruses and mycoplasmas were negative; the cell line showed no cross contamination when assessed by isoenzyme analysis; the chromosome number was 2n = 78 on more than 88% of occasions; four kinds of fluorescent protein extro-genes appeared to be expressed effectively with a high transfection efficiency between 18.3% and 42.3%. The cell line met the required quality control standard. It not only preserves the genetic resources of the important Silkie Bantam at the cellular level but also provides valuable materials for genomic, post-genomic, somatic cell cloning research and other applications.

Detection of Quantitative Trait Loci Affecting Fat Deposition Traits in Pigs

  • Choi, B.H.;Lee, K.T.;Lee, H.J.;Jang, G.W.;Lee, H.Y.;Cho, B.W.;Han, J.Y.;Kim, T.H.
    • Asian-Australasian Journal of Animal Sciences
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    • 제25권11호
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    • pp.1507-1510
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    • 2012
  • Quantitative trait loci (QTL) associated with fat deposition traits in pigs are important gene positions in a chromosome that influence meat quality of pork. For QTL study, a three generation resource population was constructed from a cross between Korean native boars and Landrace sows. A total of 240 F2 animals from intercross of F1 were produced. 80 microsatellite markers covering chromosomes 1 to 10 were selected to genotype the resource population. Intervals between adjacent markers were approximately 19 cM. Linkage analysis was performed using CRIMAP software version 2.4 with a FIXED option to obtain the map distances. For QTL analysis, the public web-based software, QTL express (http://www.qtl.cap.ed.ac.uk) was used. Two significant and two suggestive QTL were identified on SSC 6, 7, and 8 as affecting body fat and IMF traits. For QTL affecting IMF, the most significant association was detected between marker sw71 and sw1881 on SSC 6, and a suggestive QTL was identified between sw268 and sw205 on SSC8. These QTL accounted for 26.58% and 12.31% of the phenotypic variance, respectively. A significant QTL affecting IMF was detected at position 105 cM between markers sw71 and sw1881 on SSC 6.

In Vivo Excision and Amplification of Large Human Genomic Segments Using Cre/loxP-and EBNA-1/oriP-mediated Machinery

  • Yoon, Young-Geol;Choi, Ja-Young;Kim, Jung-Min;Lee, Jun-Hyoung;Kim, Sun-Chang
    • BMB Reports
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    • 제34권4호
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    • pp.322-328
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    • 2001
  • Excision and amplification of pre-determined, large genomic segments (taken directly from the genome of a natural host, which provides an alternative to conventional cloning in foreign vectors and hosts) was explored in human cells. In this approach, we devised a procedure for excising a large segment of human genomic DNA, the iNOS gene, by using the Cre/loxP system of bacteriophage P1 and amplifying the excised circles with the EBNA-1/oriP system of the Epstein-Barr virus. Two loxP sequences, each of which serves as a recognition site for recombinase Cre, were integrated unidirectionally into the 5'-UTR and 3'-UTR regions of the iNOS gene, together with an oriP sequence for conditional replication. The traps-acting genes cre and EBNA-1, which were under the control of a tetracycline responsive $P_{hcmv^*-1}$ promoter, were also inserted into the 5'-UTR and 3'-UTR regions of the iNOS gene, respectively, by homologous recombination. The strain carrying the inserted elements was stably maintained until the excision and amplification functions were triggered by the induction of cre and EBNA-1. Upon induction by doxycycline, Cre excised the iNOS gene that was flanked by two ZoxP sites and circularized it. The circularized iNOS gene was then amplified by the EBNA-1/oriP-system. With this procedure, approximately a 45.8-kb iNOS genomic fragment of human chromosome 17 was excised and successfully amplified in human cells. Our procedure can be used effectively for the sequencing of unclonable genes, the functional analysis of unknown genes, and gene therapy.

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Significance of Human Telomerase RNA Gene Amplification Detection for Cervical Cancer Screening

  • Chen, Shao-Min;Lin, Wei;Liu, Xin;Zhang, You-Zhong
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권5호
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    • pp.2063-2068
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    • 2012
  • Aim: Liquid-based cytology is the most often used method for cervical cancer screening, but it is relatively insensitive and frequently gives equivocal results. Used as a complementary procedure, the high-risk human papillomavirus (HPV) DNA test is highly sensitive but not very specific. The human telomerase RNA gene (TERC) is the most often amplified oncogene that is observed in cervical precancerous lesions. We assessed genomic amplification of TERC in liquid-based cytological specimens to explore the optimal strategy of using this for cervical cancer screening. Methods: Six hundred and seventy-one residual cytological specimens were obtained from outpatients aged 25 to 64 years. The specimens were evaluated by the Digene Hybrid Capture 2 (HC2) HPV DNA test and fluorescence in situ hybridization (FISH) with a chromosome probe to TERC (3q26). Colposcopic examination and histological evaluation were performed where indicated. Results: The TERC positive rate was higher in the CIN2+ (CIN2, CIN3 and SCC) group than in the normal and CIN 1 groups (90.0% vs. 10.4%, p < 0.01). In comparison with the HC2 HPV DNA test, the TERC amplification test had lower sensitivity but higher specificity (90.0% vs. 100.0%, 89.6% vs. 44.0%, respectively). TERC amplification test used in conjunction with the HC2 HPV DNA test showed a combination of 90.0% sensitivity and 92.2% specificity. Conclusion: The TERC amplification test can be used to diagnose cervical precancerous lesions. TERC and HPV DNA co-testing shows an optimal combination of sensitivity and specificity for cervical cancer screening.

DiGeorge syndrome who developed lymphoproliferative mediastinal mass

  • Kim, Kyu Yeun;Hur, Ji Ae;Kim, Ki Hwan;Cha, Yoon Jin;Lee, Mi Jung;Kim, Dong Soo
    • Clinical and Experimental Pediatrics
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    • 제58권3호
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    • pp.108-111
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    • 2015
  • DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing thymic shadow on their plain chest x-ray. Immunodeficient patients are traditionally known to be at an increased risk for malignancy, especially lymphoma. We experienced a 7-year-old DiGeorge syndrome patient with mediastinal mass shadow on her plain chest x-ray. She visited Severance Children's Hospital hospital with recurrent pneumonia, and throughout her repeated chest x-ray, there was a mass like shadow on anterior mediastinal area. We did full evaluation including chest computed tomography, chest ultrasonography, and chest magnetic resonance imaging. To rule out malignancy, video assisted thoracoscopic surgery was done. Final diagnosis of the mass which was thought to be malignancy, was lymphoproliferative lesion.

Association of the Single Nucleotide Polymorphisms in RUNX1, DYRK1A, and KCNJ15 with Blood Related Traits in Pigs

  • Lee, Jae-Bong;Yoo, Chae-Kyoung;Park, Hee-Bok;Cho, In-Cheol;Lim, Hyun-Tae
    • Asian-Australasian Journal of Animal Sciences
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    • 제29권12호
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    • pp.1675-1681
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    • 2016
  • The aim of this study was to detect positional candidate genes located within the support interval (SI) regions based on the results of red blood cell, mean corpuscular volume (MCV), and mean corpuscular hemoglobin quantitative trait locus (QTL) in Sus scrofa chromosome 13, and to verify the correlation between specific single-nucleotide polymorphisms (SNPs) located in the exonic region of the positional candidate gene and the three genetic traits. The flanking markers of the three QTL SI regions are SW38 and S0215. Within the QTL SI regions, 44 genes were located, and runt-related transcription factor 1, dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), and potassium inwardly-rectifying channel, subfamily J, member 15 KCNJ15-which are reported to be related to the hematological traits and clinical features of Down syndrome-were selected as positional candidate genes. The ten SNPs located in the exonic region of the three genes were detected by next generation sequencing. A total of 1,232 pigs of an $F_2$ resource population between Landrace and Korean native pigs were genotyped. To investigate the effects of the three genes on each genotype, a mixed-effect model which is the considering family structure model was used to evaluate the associations between the SNPs and three genetic traits in the $F_2$ intercross population. Among them, the MCV level was highly significant (nominal $p=9.8{\times}10^{-9}$) in association with the DYRK1A-SNP1 (c.2989 G$F_2$ intercross, our approach has limited power to distinguish one particular positional candidate gene from a QTL region.