title: Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1.
abstract: 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.
authors.affiliation: Department of Neurology, University of Cincinnati, Vontz Center, Room 2327, 3125 Eden Avenue, Cincinnati, OH 45267-0536, USA.
authors.forename: Yang
authors.initials: Y
authors.lastname: Tang
authors.forename: Aigang
authors.initials: A
authors.lastname: Lu
authors.forename: Ruiqiong
authors.initials: R
authors.lastname: Ran
authors.forename: Bruce J
authors.initials: BJ
authors.lastname: Aronow
authors.forename: Elizabeth K
authors.initials: EK
authors.lastname: Schorry
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
authors.forename: Donald L
authors.initials: DL
authors.lastname: Gilbert
authors.forename: Tracy A
authors.initials: TA
authors.lastname: Glauser
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Hershey
authors.forename: Neil W
authors.initials: NW
authors.lastname: Richtand
authors.forename: Michael
authors.initials: M
authors.lastname: Privitera
authors.forename: Arif
authors.initials: A
authors.lastname: Dalvi
authors.forename: Alok
authors.initials: A
authors.lastname: Sahay
authors.forename: Jerzy P
authors.initials: JP
authors.lastname: Szaflarski
authors.forename: David M
authors.initials: DM
authors.lastname: Ficker
authors.forename: Nancy
authors.initials: N
authors.lastname: Ratner
authors.forename: Frank R
authors.initials: FR
authors.lastname: Sharp
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001790:Blood Physiological Phenomena; D005260:Female; D023281:Genomics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000097:blood* / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012737:Sex Factors