WordNet
- (genetics) an organism having two identical alleles of a particular gene and so breeding true for the particular characteristic
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English Journal
- Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy.
- Wilson V1, Darlay R, Wong W, Wood KM, McFarlane J, Schejbel L, Schmidt IM, Harris CL, Tellez J, Hunze EM, Marchbank K, Goodship JA, Goodship TH.Author information 1Northern Molecular Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.AbstractWe report a male infant who presented at 8 months of age with atypical hemolytic uremic syndrome (aHUS) responsive to plasma therapy. Investigation showed him to have complement factor H (CFH) deficiency associated with a homozygous CFH mutation (c.2880delT [p.Phe960fs]). Mutation screening of the child's parents revealed that the father was heterozygous for this change but that it was not present in his mother. Chromosome 1 uniparental isodisomy of paternal origin was confirmed by genotyping chromosome 1 SNPs. CD46 SNP genotyping was undertaken in this individual and another patient with CFH deficiency associated with chromosome 1 uniparental isodisomy. This showed a homozygous aHUS risk haplotype (CD46GGAAC) in the patient with aHUS and a homozygous glomerulonephritis risk haplotype (CD46AAGGT) in the patient with endocapillary glomerulonephritis. We also showed that FHL-1 (factor H-like protein 1) was present in the patient with aHUS and absent in the patient with glomerulonephritis. This study emphasizes that modifiers such as CD46 and FHL-1 may determine the kidney phenotype of patients who present with homozygous CFH deficiency.
- American journal of kidney diseases : the official journal of the National Kidney Foundation.Am J Kidney Dis.2013 Nov;62(5):978-83. doi: 10.1053/j.ajkd.2013.05.020. Epub 2013 Jul 16.
- We report a male infant who presented at 8 months of age with atypical hemolytic uremic syndrome (aHUS) responsive to plasma therapy. Investigation showed him to have complement factor H (CFH) deficiency associated with a homozygous CFH mutation (c.2880delT [p.Phe960fs]). Mutation screening of the c
- PMID 23870792
- Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities.
- Mason-Suares H1, Kim W, Grimmett L, Williams ES, Horner VL, Kunig D, Goldlust IS, Wu BL, Shen Y, Miller DT, Martin CL, Rudd MK.Author information 1Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.AbstractPURPOSE: A combination of oligonucleotide and single-nucleotide polymorphism probes on the same array platform can detect copy-number abnormalities and copy-neutral aberrations such as uniparental disomy and long stretches of homozygosity. The single-nucleotide polymorphism probe density in commercially available platforms varies widely, which may affect the detection of copy-neutral abnormalities.
- Genetics in medicine : official journal of the American College of Medical Genetics.Genet Med.2013 Sep;15(9):706-12. doi: 10.1038/gim.2013.36. Epub 2013 Apr 4.
- PURPOSE: A combination of oligonucleotide and single-nucleotide polymorphism probes on the same array platform can detect copy-number abnormalities and copy-neutral aberrations such as uniparental disomy and long stretches of homozygosity. The single-nucleotide polymorphism probe density in commerci
- PMID 23558256
- Matching maternal isodisomy in mucinous carcinomas and associated ovarian teratomas provides evidence of germ cell derivation for some mucinous ovarian tumors.
- Kerr SE1, Flotte AB, McFalls MJ, Vrana JA, Halling KC, Bell DA.Author information 1Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.AbstractThe tissue derivation of mucinous ovarian carcinoma remains a mystery; however, rare tumors are associated with mature teratoma. Two decades ago, studies of chromosomal heteromorphisms and DNA polymorphisms proved that ovarian teratomas arise during female gametogenesis. We sought to exploit the relationship between mucinous carcinoma and associated teratoma to provide molecular evidence for tissue of origin. Seventeen cases of mucinous ovarian carcinoma were studied, 6 of which had associated mature teratoma. DNA was extracted from the mucinous carcinoma, teratoma, and normal dissected tissue from formalin-fixed, paraffin-embedded sections. Twelve polymorphic microsatellite markers were used to allelotype each sample. Alleles from the teratomas and carcinomas were scored as homozygous (1 allele present in the tumor when normal tissue was heterozygous), heterozygous (2 alleles present matching normal tissue), or noninformative (normal tissue was homozygous). Of the 6 carcinoma/teratoma pairs, 2 showed complete matching homozygosity for informative markers (isodisomy), whereas 2 showed matching heterozygosity. One case did not have the corresponding teratoma available for comparison but demonstrated complete homozygosity and was presumed to be isodisomic. The remaining case had a teratoma homozygous for 7 of 10 informative markers, whereas the matching carcinoma was homozygous for only 2 of these markers. Carcinomas without associated teratoma demonstrated variable zygosity. Microsatellite polymorphism analysis demonstrates that mucinous ovarian carcinomas usually clonally match associated teratomas when present and often show evidence of complete isodisomy, indicating that at least some mucinous carcinomas arise from female gametes and thus are of germ cell origin. The zygosity patterns in mucinous carcinomas without teratoma suggest that these tumors may arise through a different mechanism.
- The American journal of surgical pathology.Am J Surg Pathol.2013 Aug;37(8):1229-35. doi: 10.1097/PAS.0b013e31828f9ecb.
- The tissue derivation of mucinous ovarian carcinoma remains a mystery; however, rare tumors are associated with mature teratoma. Two decades ago, studies of chromosomal heteromorphisms and DNA polymorphisms proved that ovarian teratomas arise during female gametogenesis. We sought to exploit the rel
- PMID 23774174
Japanese Journal
- Mechanisms for the Occurrence of Three Uniparental Disomies Associated with Abnormal Phenotypes
- Osamu MIYOSHI
- Acta medica Nagasakiensia 43(3-4), 19-25, 1998-12
- … Results of a molecular-genetic study on the mechanism of uniparental disomy (UPD) in three individuals are reported. … Case 1 was a physically normal adult whose Rh blood-type showed mosaicism of two phenotypes, D+ (or D/D genotype) and D- (or d/d genotype), while his father and mother were a D/d heterozygote and a D/D homozygote respectively. …
- NAID 110000013829
Related Links
- 1. Int J Hematol. 2015 Apr;101(4):411-6. doi: 10.1007/s12185-014-1711-y. Epub 2014 Nov 28. Identification of a homozygous JAK3 V674A mutation caused by acquired uniparental disomy in a relapsed early T-cell ...
- 1. J Clin Endocrinol Metab. 2013 Feb;98(2):E397-402. doi: 10.1210/jc.2012-2779. Epub 2012 Dec 28. Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery. Le ...
Related Pictures
★リンクテーブル★
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- 英
- uniparental homozygote
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