Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies.

Archives of neurology - 1 Apr 2005

Mittal Uma, Srivastava Achal K, Jain Satish, Jain Sanjeev, Mukerji Mitali

Abstract excerpt

BACKGROUND: The ACA haplotype is associated with 72% of the expanded repeats in Machado-Joseph disease (MJD) worldwide and has been traced to a Portuguese ancestry. It is present in only 5% of the normal chromosomes in the Portuguese population. OBJECTIVE: To trace the origin of expanded alleles of MJD in the Indian population. METHODS: We performed CAG repeat size determination and haplotype analysis for 9...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Founder Effect
Share to Gene Conversion

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Machado-Joseph Disease

Share to Portugal

Share to Prevalence

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 15824265
DOI: 10.1001/archneur.62.4.637

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies.PMID 15824265Read ↗

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.Semantic proximity Read ↗

Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events.Semantic proximity Read ↗

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.Semantic proximity Read ↗

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.Semantic proximity Read ↗

Improvement in the molecular diagnosis of Machado-Joseph disease.Semantic proximity Read ↗

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.Semantic proximity Read ↗

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineageSemantic proximity Read ↗

Variation of CAG repeats and two intragenic polymorphisms at SCA3 locus among Machado-Joseph disease/SCA3 patients and diverse normal populations from eastern India.Semantic proximity Read ↗

Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats.Semantic proximity Read ↗

High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.Semantic proximity Read ↗

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.Semantic proximity Read ↗

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.