Mapping of a Familial Moyamoya Disease Gene to Chromosome 3p24.2-p26
نویسندگان
چکیده
منابع مشابه
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.
To identify the chromosomal location of a gene responsible for familial hypertrophic cardiomyopathy, we used clinical and molecular genetic techniques to evaluate the members of a large kindred. Twenty surviving and 24 deceased family members had hypertrophic cardiomyopathy; 58 surviving members were unaffected. Genetic-linkage analyses were performed with polymorphic DNA loci dispersed through...
متن کاملLinkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25.
BACKGROUND AND PURPOSE Moyamoya disease is a cerebrovascular disease of unknown cause that mainly affects Japanese children. The incidence of familial occurrence accounts for 9% of cases. The characteristic lesions of moyamoya disease are occasionally seen in neurofibromatosis type 1, of which the causative gene (NF1) has been assigned to chromosome 17q11.2. METHODS To determine whether a gen...
متن کاملMoyamoya Disease Mimicking Encephalitis
Moyamoya disease is a rare vaso-occlusive illness with an unknown etiology characterized by stenosis of the internal carotid arteries with spontaneous development of a collateral vascular network.A 15-month-old girl was referred to the emergency ward of Imam Reza Hospital due to decreased level of consciousness, focal seizures and fever during the previous 24 hours with an impression of encepha...
متن کاملGene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.
Dilated cardiomyopathy (DCM) is the most common form of primary myocardial disorder, accounting for 60% of all cardiomyopathies. In 20-30% of cases, familial inheritance can be demonstrated; an autosomal dominant transmission is the usual type of inheritance pattern identified. Previously, genetic heterogeneity was demonstrated in familial autosomal dominant dilated cardiomyopathy (FDCM). Gene ...
متن کاملP-239: NGS Mapping Breakpoints of a Familial Chromosome Insertion (18:7) (q22.1; q36.2 q21.11) to DPP6 and CACNA2D1 Genes in An Azoospermic Man
Background: Aberrant chromosomes can cause azoospermia but little is known about its molecular mechanism. Our aim is to explore any possible genetic defective to explain a given male infertility. Materials and Methods: An azoopsermic male was identified in a 23 years old male. G-banding and FISH confirmed the karyotype as chromosome insertion (18:7) (q22.1; q36.2q21.11). NGS was performed to an...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1999
ISSN: 0002-9297
DOI: 10.1086/302243