Human blood genomics: Distinct profiles for gender, age and neurofibromatosis type 1

Yang Tang, Aigang Lu, Ruiqiong Ran, Bruce J. Aronow, Elizabeth K. Schorry, Robert J. Hopkin, Donald L. Gilbert, Tracy A. Glauser, Andrew D. Hershey, Neil W. Richtand, Michael Privitera, Arif Dalvi, Alok Sahay, Jerzy P. Szaflarski, David M. Ficker, Nancy Ratner, Frank R Sharp

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


Application of gene expression profiling to human diseases will be limited by availability of tissue samples. It was postulated that germline genetic defects affect blood cells to produce unique expression patterns. This hypothesis was addressed by using a test neurological disease-neurofibromatosis type 1 (NF1), an autosomal dominant genetic disease caused by mutations of the NF1 gene at chromosome 17q11.2. Oligonucleotide arrays were used to survey the blood gene expression pattern of 12 NF1 patients compared to 96 controls. A group of genes related to tissue remodeling, bone development and tumor suppression were down-regulated in NF1 blood samples. In addition, there were blood genomic patterns for gender and age: Y chromosome genes showing higher expression in males, indicating a gene-dosage effect; and genes related to lymphocyte functions showing higher expression in children. The results suggest that genetic mutations can be manifested at the transcriptional level in peripheral blood cells and blood gene expression profiling may be useful for studying phenotypic differences of human genetic diseases and possibly providing diagnostic and prognostic markers.

Original languageEnglish (US)
Pages (from-to)155-167
Number of pages13
JournalMolecular Brain Research
Issue number2
StatePublished - Dec 20 2004
Externally publishedYes


  • Age
  • Blood
  • Disorders of the nervous system
  • Gender
  • Gene expression profiling
  • Genetic models
  • Genomics
  • Marker
  • Microarray
  • Neurofibromatosis

ASJC Scopus subject areas

  • Molecular Biology
  • Cellular and Molecular Neuroscience


Dive into the research topics of 'Human blood genomics: Distinct profiles for gender, age and neurofibromatosis type 1'. Together they form a unique fingerprint.

Cite this