Catálogo de publicaciones - revistas
Annals of Human Genetics
Resumen/Descripción – provisto por la editorial en inglés
The Annals of Human Genetics is an international journal publishing rigorously peer-reviewed research. The principal aim of the Annals is to increase understanding of the biology of human variation, both in disease and in health. In recent years it has become apparent that the study of population genetics is extremely relevant to molecular pathology. The interaction of these fields can greatly increase our understanding of the generation and maintenance of variation in the human genome.Palabras clave – provistas por la editorial
Annals of Human Genetics; human genetics; genetics; cell biology; developmental biology; human genom
Disponibilidad
| Institución detectada | Período | Navegá | Descargá | Solicitá |
|---|---|---|---|---|
| No detectada | desde ene. 1954 / hasta dic. 2023 | Wiley Online Library |
Información
Tipo de recurso:
revistas
ISSN impreso
0003-4800
ISSN electrónico
1469-1809
Editor responsable
John Wiley & Sons, Inc. (WILEY)
País de edición
Reino Unido
Fecha de publicación
1954-2012
Cobertura temática
Tabla de contenidos
doi: 10.1111/ahg.12482
Germline variants screening of MLH1 , MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study
Asma‐Lamia Boumehdi; Farid Cherbal
; Feriel Khider; Mohammed Oukkal; Hassen Mahfouf; Ferhat Zebboudj; Mustapha Maaoui
Palabras clave: Genetics (clinical); Genetics.
Pp. 328-352
doi: 10.1111/ahg.12576
Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effects
Irene Paradisi; Sergio Arias; Vassiliki Ikonomu
<jats:title>Abstract</jats:title><jats:sec><jats:title>Introduction</jats:title><jats:p>The American continent populations have a wide genetic diversity, as a product of the admixture of three ethnic groups: Amerindian, European, and African Sub‐Saharan. Spinocerebellar ataxia type 10 (SCA10) and Huntington disease‐like 2 (HDL2) have very ancient ancestral origins but are restricted to two populations: Amerindian and African Sub‐Saharan, respectively. This study aimed to investigate the genetic epidemiological features of these diseases in Venezuela.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>In‐phase haplotypes with the expanded alleles were established in seven unrelated index cases diagnosed with SCA10 and in 11 unrelated index cases diagnosed with HDL2. The origins of remote ancestors were recorded.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The geographic origin of the ancestors showed grouping in clusters. SCA10 had a minimal general prevalence of 1:256,174 families in the country, but within the identified geographic clusters, the prevalence ranged from 5 per 100,000 to 43 per 100,000 families. HDL2 had a general prevalence of 1:163,016 families, however, within the clusters, the prevalence ranged from 31 per 100,000 to 60 per 100,000 families. The locus‐specific haplotype shared by all families worldwide, including the Venezuelans, supports a single old ancestral origin in each case.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Knowing the genetic ancestry and geographic origins of patients in Ibero‐American mixed populations could have significant diagnostic implications; thus, both diseases in Venezuela should always be first explored in patients with a suggestive phenotype and ancestors coming from the same known geographic clusters.</jats:p></jats:sec>
Pp. No disponible