Penetrance Rate
Mostrando 1-12 de 27 artigos, teses e dissertações.
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1. Penetrance rate estimation in autosomal dominant conditions
Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following situations: 1) estimation of the penetrance rate K (brief review of the method); 2) construction of exact
Genet. Mol. Biol.. Publicado em: 02/08/2012
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2. RET codon 609 mutations: a contribution for better clinical managing
Medullary thyroid carcinoma currently accounts for 5-8% of all thyroid cancers. The clinical course of this disease varies from extremely indolent tumors that can go unchanged for years to an extremely aggressive variant that is associated with a high mortality rate. As many as 75% of all medullary thyroid carcinomas are sporadic, with an average age at pres
Clinics. Publicado em: 2012
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3. Genotype-phenotype correlation in multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2 is an autosomal-dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the rearranged during transfection proto-oncogene, which encodes the receptor tyrosine kinase, on chromosome 10. It has a strong penetrance of medullary thyroid carcinomas and can be associated with bilateral pheochromocyto
Clinics. Publicado em: 2012
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4. Penetrance rate estimation for autosomal dominant diseases: study of models and development of a computer program / Estimativa do valor da taxa de penetrância em doenças autossômicas dominantes: estudo teórico de modelos e desenvolvimento de um programa computacional
O objetivo principal do trabalho foi o desenvolvimento de um programa computacional, em linguagem Microsoft Visual Basic 6.0 (versão executável), para estimativa da taxa de penetrância a partir da análise de genealogias com casos de doenças com herança autossômica dominante. Embora muitos dos algoritmos empregados no programa tenham se baseado em idé
Publicado em: 2009
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5. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.
Febrile convulsions affect 2 to 5% of all children under the age of 5 years. These convulsions probably have a variety of causes, but a genetic component has long been recognised. A large and remarkable family is described in which febrile convulsions appear to result from autosomal dominant inheritance at a single major locus. A gene for febrile convulsions
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6. Deleterious Mutations as an Evolutionary Factor. II. Facultative Apomixis and Selfing
A population with u deleterious mutations per genome per generation is considered in which only those individuals that carry less than a critical number k of mutations are viable. Besides a large number of loci subject to mutation and selection, the genome contains one or two special loci responsible for the mode of reproduction. Amphimixis vs. selfing are
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7. Segregation analysis of peripheral neurofibromatosis (NF1).
Four studies of NF1 support a prevalence of 0.0003 and a carrier incidence at birth of 0.0004. The gene frequency (q) is therefore 0.0002, and the proportion of cases owing to fresh mutation is 0.56. The mutation rate (xq) is 10(-4), an unusually high value suggestive of a large gene. Penetrance among subjects examined is virtually complete, and there is no
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8. Genetic aspects of tuberous sclerosis in the west of Scotland.
Complete ascertainment of tuberous sclerosis was attempted in the west of Scotland (population 2,763,000). A total of 101 patients was identified, giving an overall minimum prevalence of 1 in 27,000, but for children under 10 years of age the minimum prevalence was 1 in 12,000. Both parents of 84 of the ascertained cases were assessed for signs of tuberous s
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9. Prevalence and genetic aspects of deaf mutism in Shanghai.
Two hundred and eighty-five cases of congenital deaf mutism were ascertained in a population of 483,611 in Zhabei District in Shanghai. The prevalence was 0.059% (1:1697). Inherited cases accounted for 84.83% of all cases. The mode of inheritance was autosomal recessive with complete penetrance and heterogeneity (consisting of at least five different loci).
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10. Sequence-dependent denaturation energetics: A major determinant in amyloid disease diversity
Several misfolding diseases commence when a secreted folded protein encounters a partially denaturing microenvironment, enabling its self assembly into amyloid. Although amyloidosis is modulated by numerous environmental and genetic factors, single point mutations within the amyloidogenic protein can dramatically influence disease phenotype. Mutations that d
The National Academy of Sciences.
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11. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.
A population based study of von Recklinghausen neurofibromatosis in south east Wales (population 668,100) identified 69 families with 135 affected members (prevalence 1/4950 of the population). In these families penetrance of the NF-1 gene was 100% by the age of five years. The genetic fitness of NF-1 sufferers was found to be reduced to 0.47, the effect bei
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12. Genetic aspects of fibrodysplasia ossificans progressiva.
Complete ascertainment of fibrodysplasia ossificans progressiva in the United Kingdom was attempted and 44 patients were identified. This indicates a point prevalence of 0.61 x 10(-6). The disease is determined as an autosomal dominant trait which has complete penetrance but variable expressivity. No evidence for genetic heterogeneity was found in this serie