Genetic and Epigenetic Differences in Monozygotic Twins with NF1

Abstract

There is currently no way to predict which patients with NF1 are at high risk for serious complications. We have undertaken an exploratory study of monozygotic (MZ) twins with NF1 who are discordant for various NF complications, and assessed for differences in copy number variations (CNV) in their DNA using genetic microarray technology. We are testing the hypothesis that MZ twin pairs with NF1 will have within-pair differences in CNVs that may explain their discordant NF complications. To date, we have enrolled and studied 10 pairs of MZ twins with NF1 and 12 parents. Preliminary data analysis shows a mean of 19.6 raw CNVs per twin pair, with no de novo CNVs and no discordancies in CNVs within twin pairs found in analysis of the first 5 twin sets. On average, 3.6 CNVs per twin pair contain genes, and could be candidates for modifiers of phenotype. Data analysis is continuing, with emphasis on genes located within CNVs that may affect clinical phenotype.

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Document Details

Document Type
Technical Report
Publication Date
Oct 01, 2011
Accession Number
ADA554129

Entities

People

  • Elizabeth K. Schorry

Tags

DTIC Thesaurus Topics

  • Abstracts
  • Biomedical Research
  • Bone Diseases
  • Cognitive Impairment
  • Data Analysis
  • Department Of Defense
  • Diseases And Disorders
  • Genes
  • Genetic Phenomena
  • Genetic Structures
  • Genetics
  • Health Services
  • Information Operations
  • Molecular Genetics
  • Neuromuscular Diseases
  • Phenotypes
  • Skin Diseases

Fields of Study

  • Medicine

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  • Geochemistry
  • Molecular and Cellular Biology
  • Women's Health and Cancer Risk Research: African American Women and Pregnancy Outcomes.

Technology Areas

  • Biotechnology