• 제목/요약/키워드: Heterozygous

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Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II

  • Ko, Jae Sung;Chang, Ju Young;Moon, Jin Soo;Yang, Hye Ran;Seo, Jeong Kee
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제17권1호
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    • pp.37-40
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    • 2014
  • Purpose: Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). The study investigated the mutation spectrum of UGT1A1 gene in Korean children with CN-2. Methods: Five Korean CN-2 patients from five unrelated families and 50 healthy controls were enrolled. All five exons and flanking introns of the UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced. Results: All children initially presented with neonatal jaundice and had persistent indirect hyperbilirubinemia. Homozygous p.Y486D was identified in all five patients. Three patients had an associated homozygous p.G71R and two a heterozygous p.G71R. The allele frequency of p.Y486D and p.G71R in healthy controls was 0 and 0.16, respectively. No significant difference in mean serum bilirubin levels was found between homozygous carriers of p.G71R and heterozygous carriers. Conclusion: The combination of homozygous p.Y486D and homozygous or heterozygous p.G71R is identified. The p.Y486D and p.G71R can be screened for the mutation analysis of UGT1A1 in Korean CN-2 patients.

Frequency of FLT3 (ITD, D835) Gene Mutations in Acute Myelogenous Leukemia: a Report from Northeastern Iran

  • Allahyari, Abolghasem;Sadeghi, Masoud;Ayatollahi, Hossein;Yazdi, Hamed Najjaran;Tavakol, Mohammad
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권9호
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    • pp.4319-4322
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    • 2016
  • Background: FLT3 is mutated in about 1/3 of acute myelogenous leukemia (AML) patients. The aim of the present study was to report the prevalence of FLT3 mutations and comparison with prognostic factors in AML patients in the Northeastern of Iran. Materials and Methods: This cross-sectional study concerned 100 AML cases diagnosed based on bone marrow aspiration and peripheral blood. DNA for every AML patient was extracted and underwent PCR with FLT3-ITD primers. Results: The mean age at diagnosis was 28.5 years (range, 1-66 years), 52 patients (52%) being male. Out of 100 AML patients, 21 (21%) had FLT3 mutation, (17 with FLT3-ITD, 81%, and 4 with FLT3-D825, 19%). Of the 21, 14 (66.7%) had heterozygous mutation. There was no significant difference between age, sex and organomegaly between patients with FLT3 mutation versus FLT3 wild-type. Conclusions: Our frequency of FLT3 is in line with earlier fidnings of approximately 20 to 30% and also the prevalence of FLT3-ITD is more than FLT3-D35 mutation. There was no significant difference between prognostic factors (age and sex) in the patients with FLT3 mutation versus FLT3 wild-type. The prevalence of FLT3 heterozygous mutations is more that homozygous mutations in AML patients.

Marker-assisted Genotype Analysis of Bulb Colors in Segregating Populations of Onions (Allium cepa)

  • Kim, Sunggil;Bang, Haejeen;Yoo, Kil-Sun;Pike, Leonard M.
    • Molecules and Cells
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    • 제23권2호
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    • pp.192-197
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    • 2007
  • Bulb color in onions (Allium cepa) is an important trait whose complex inheritance mechanism involves epistatic interactions among major color-related loci. Recent studies revealed that inactivation of dihydroflavonol 4-reductase (DFR) in the anthocyanin synthesis pathway was responsible for the color differences between yellow and red onions, and two recessive alleles of the anthocyanidin synthase (ANS) gene were responsible for a pink bulb color. Based on mutations in the recessive alleles of these two genes, PCR-based markers for allelic selection were developed. In this study, genotype analysis of onions from segregating populations was carried out using these PCR-based markers. Segregating populations were derived from the cross between yellow and red onions. Five yellow and thirteen pink bulbs from one segregating breeding line were genotyped for the two genes. Four pink bulbs were heterozygous for the DFR gene, which explains the continuous segregation of yellow and pink colors in this line. Most pink onions were homozygous recessive for the ANS gene, except for two heterozygotes. This finding indicated that the homozygous recessive ANS gene was primarily responsible for the pink color in this line. The two pink onions, heterozygous for the ANS gene, were also heterozygous for the DFR gene, which indicated that the pink color was produced by incomplete dominance of a red color gene over that of yellow. One pink line and six other segregating breeding lines were also analyzed. The genotyping results matched perfectly with phenotypic color segregation.

생쥐 수정란의 핵이식에 관한 연구 I. 모성 및 부성 genome의 기능차이에 관한 연구 (Studies on nuclear transplantation in mouse embryos. I. Functional differences between maternal and paternal genomes)

  • 최상용;박충생;이효종;박희성
    • 대한수의학회지
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    • 제30권2호
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    • pp.123-127
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    • 1990
  • 모성 및 부성 genome의 기능을 알아보기 위하여 미세조작기법과 Sendai virus를 이용한 핵융합 기술을 이용하여 2개의 자성전핵만으로 구성된 2배체의 gynogenetic 수정란을 그리고 2개의 웅성전핵만으로 구성된 2배체의 androgenetic 수정란을 인위적으로 작출하였다. 이들의 작출효율은 biparental 수정란에서는 56%, gynogenetic 수정란에서는 50% 그리고 androgenetic 수정란에서는 56% 이었다. 이들을 체외에서 배양한 결과 gynogenetic 및 androgenetic 수정란은 2-세포기 이후에는 biparental 및 intact 수정란에 비하여 그 발달능이 매우 저조하였으나 이들 중 25% 이상이 포배까지 발달한 수 있음을 확인하였다. Gynogenetic 및 androgenetic 수정란을 동기화된 수란생쥐의 난관내에 이식하였던 바, androgenetic 수정란은 전혀 착상 되지 않았으나, gynogenetic 수정란에서는 착상이 확인되었다. 핵이식기법으로 인위조작된 2배체의 biparental 수정란으로부터 28마리의 생쥐 신생자를 생산하였다.

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Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation

  • Bak, Na Ry;Song, Eun Song;Yang, Eun Mi;Kim, Chan Jong
    • Childhood Kidney Diseases
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    • 제23권2호
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    • pp.111-115
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    • 2019
  • Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1. Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological features of rickets. We aimed to present the VDDR1A case with a genetic study of CYP27B1. The 14-month-old boy was admitted to the hospital due to a seizure. Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone (PTH), 25(OH) vitamin D, and 1,25(OH)2 vitamin D values were 5.1 mg/dL, 3.7 mg/dL, 705 IU/L, 429 pg/mL, 24.9 ng/mL, and 8.8 pg/mL, respectively. Radiological study showed cupping and fraying of the distal ulna and radius. The molecular genetic study revealed that the patient had a compound heterozygous mutation, $Phe443Profs^*24$ and c.589+1G>A, in CYP27B1. Genetic analysis of the family members presented that the mother was heterozygous for the mutation c.589+1G>A, and that the father was heterozygous for $Phe443Profs^*24$. The patient was treated with calcium lactate and calcitriol. Until now, six Korean patients with VDDR1A have been studied. Including this case, Korean patients with VDDR1A were found to have only three different mutations in 14 alleles, indicating that the mutation in the CYP27B1 gene is homogeneous in the Korean population.

A case of TBC1D32-related ciliopathy with novel compound heterozygous variants

  • Ahn, Ji Ye;Kim, Soo Yeon;Lim, Byung Chan;Kim, Ki Joong;Chae, Jong Hee
    • Journal of Genetic Medicine
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    • 제18권1호
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    • pp.64-69
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    • 2021
  • Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

Impact of type 2 diabetes variants identified through genome-wide association studies in early-onset type 2 diabetes from South Indian population

  • Liju, Samuel;Chidambaram, Manickam;Mohan, Viswanathan;Radha, Venkatesan
    • Genomics & Informatics
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    • 제18권3호
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    • pp.27.1-27.12
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    • 2020
  • The prevalence of early-onset type 2 diabetes (EOT2D) is increasing in Asian countries. Genome-wide association studies performed in European and various other populations have identified associations of numerous variants with type 2 diabetes in adults. However, the genetic component of EOT2D which is still unexplored could have similarities with late-onset type 2 diabetes. Here in the present study we aim to identify the association of variants with EOT2D in South Indian population. Twenty-five variants from 18 gene loci were genotyped in 1,188 EOT2D and 1,183 normal glucose tolerant subjects using the MassARRAY technology. We confirm the association of the HHEX variant rs1111875 with EOT2D in this South Indian population and also the association of CDKN2A/2B (rs7020996) and TCF7L2 (rs4506565) with EOT2D. Logistic regression analyses of the TCF7L2 variant rs4506565(A/T), showed that the heterozygous and homozygous carriers for allele 'T' have odds ratios of 1.47 (95% confidence interval [CI], 1.17 to 1.83; p = 0.001) and 1.65 (95% CI, 1.18 to 2.28; p = 0.006) respectively, relative to AA homozygote. For the HHEX variant rs1111875 (T/C), heterozygous and homozygous carriers for allele 'C' have odds ratios of 1.13 (95% CI, 0.91 to 1.42; p = 0.27) and 1.58 (95% CI, 1.17 to 2.12; p = 0.003) respectively, relative to the TT homozygote. For CDKN2A/2B variant rs7020996, the heterozygous and homozygous carriers of allele 'C' were protective with odds ratios of 0.65 (95% CI, 0.51 to 0.83; p = 0.0004) and 0.62 (95% CI, 0.27 to 1.39; p = 0.24) respectively, relative to TT homozygote. This is the first study to report on the association of HHEX variant rs1111875 with EOT2D in this population.

Human Milk Oligosaccharide Profiles and the Secretor and Lewis Gene Status of Indonesian Lactating Mothers

  • Verawati Sudarma;Diana Sunardi;Nanis Sacharina Marzuki;Zakiudin Munasir;Asmarinah;Adi Hidayat;Badriul Hegar
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제26권5호
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    • pp.266-276
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    • 2023
  • Purpose: Human milk oligosaccharides (HMOs) may be genetically determined based on the secretor and Lewis status of the mother. This study aims to determine the HMO profile and the secretor and Lewis gene status of Indonesian lactating mothers. Methods: Baseline data of 120 mother-infant pairs between 0-4 months post-partum obtained from a prospective longitudinal study was used. The concentrations of 2'-fucosyllactose (2'FL), lacto-N-fucopentaose I (LNFP I), lacto-N-tetraose (LNT), lacto-N-neotetraose (LNnT), 3'-sialyllactose (3'SL), and 6'-sialyllactose (6'SL) were measured. Genetic analysis was performed for mothers using targeted next-generation sequencing and Sanger sequencing. Wild-type AA with the rs1047781 (A385T) polymorphism was categorized as secretor positive, while heterozygous mutant AT was classified as a weak secretor. The presence of rs28362459 (T59G) heterozygous mutant AC and rs3745635 (G508A) heterozygous mutant CT genes indicated a Lewis negative status, and the absence of these genes indicated a positive status. Subsequently, breast milk was classified into various groups, namely Group 1: Secretor+Lewis+ (Se+Le+), Group 2: Secretor-Lewis+ (Se-Le+), Group 3: Secretor+Lewis-(Se+Le-), and Group 4: Secretor-Lewis- (Se-Le-). Data were analyzed using the Mann-Whitney and Kruskal-Wallis rank tests, and a p-value of 0.05 indicated statistical significance. Results: A total of 58.3% and 41.7% of the samples had positive and weak secretor statuses, respectively. The proportion of those in Group 1 was 85%, while 15% were Group 3. The results showed that only 2'FL significantly differed according to the secretor status (p-value=0.018). Conclusion: All Indonesian lactating mothers in this study were secretor positive, and most of them had a Lewis-positive status.

Advances of Self-incompatibility Genetics in Genus Fagopyrum

  • Woo Sun-Hee;Soo-Jeong Kwon;Sung-Hyun Yun;Min-Young Park;Probir Kumar Mittra;Swapan Kumar Roy;Seong-Woo Cho
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2022년도 추계학술대회
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    • pp.191-191
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    • 2022
  • Heterostyly continues to fascinate evolutionary biologists interested in heredity, evolution, breeding, and adaptive function. Polymorphism demonstrates how simply inherited developmental changes in the location of plant sexual associations can have important consequences for population pollination and mating biology. In contrast to homozygous self incompatibility, only a small number of mating phenotypes can be maintained in the population because insect pollinators have limitations in achieving multiple segregation sites for pollen deposition. Field studies of pollen tube growth have shown that reciprocal style-stamen polymorphisms function to increase the capacity of insect-mediated cross-pollination. The genetic pattern of style morphs is well established in various taxa, but despite recent advances, the identity, number, and structure of the genes controlling the heteromorphic syndrome have been poorly elucidated. The phenomenon of heterostyly in buckwheat has been controlled by gene complex concentrate to S-locus. Homomorphic autogamous buckwheat strains were established by the interspecific hybridization. Backcrossing of this line to the common buckwheat (pin) and selecting homostylar progenies made it possible to introduce the self-compatible gene into common buckwheat. In the result, we obtained the BC9F2 generation, and defined the strong linkage between flower type and self-incompatibility by microscopic observation of pollen tube growth. This finding suggests that self-incompatibility character is not controlled by one gene. Moreover, we defined the strong linkage between flower type and self-incompatibility. It strongly supports the S supergene theory. Therefore, we have plan to elucidate the heterostyly self-incompatibility by using molecular genetics, proteome analysis and apply to exploitation of buckwheat improvement. In near future, the expression of heterozygous syndromes in genus Fagopyrum with single isolated heterozygous species may provide clues to early stages of polymorphic assembly and shed light on evolutionary models of heterozygous strains.

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Fine Mapping of Zenith Derived Rice Stripe Virus Resistance Gene, Stv-b

  • Sais-Beul Lee;Jun-Hyun Cho;Nkulu Rolly Kabange;Sumin Jo;Ji-Yoon Lee;Yeongho Kwon;Ju-Won Kang;Dongjin Shin;Jong-Hee Lee;You-Cheon Song;Jong-Min Ko;Dong-Soo Park
    • 한국자원식물학회:학술대회논문집
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    • 한국자원식물학회 2020년도 추계국제학술대회
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    • pp.63-63
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    • 2020
  • Rice stripe virus (RSV) disease is one of the major constraints in rice production, transmitted by the small brown planthopper (SBPH; Laodelphax striatellus). Upon RSV infection, plants develop typical symptoms, which include chlorosis and weakness of newly emerged leaves, white and yellow spots, stripe on leaves, and necrotic and wilting leaves, resulting in plant growth inhibition, oxidative damage that may culminate in programmed cell death (PCD) and plant death in severe epidemics. Although RSV-resistant quantitative trait loci (QTLs), Stv-a, Stv-b, and Stv-bi, were mapped using various resistant varieties, one RSV-resistant gene, OsSOT1, has been identified so far. In this study, we used the rice cultivar Zenith, known to carry Stv-b, to investigate novel RSV-genes through fine mapping. Therefore, we crossed Zenith (Donor parent, RSV resistant) with Ilpum (Recurrent parent, RSV susceptible) to fine-map using a BC2F2 population of 2100 plants. Chromosome segment introgression lines that were heterozygous at a different region were selected, two types of heterozygous lines showed an heterozygous genotype between Sid2 and Sid75 to Indel9 and RM6680. Interestingly, we identified qSTV11Z region harboring Stv-b, covering about 171-kb region between the InDel markers Sid75 and Indel8. The localization of qSTV11Z provides useful information that could be used for marker-assisted selection and determination of genetic resources in rice breeding.

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