Down Syndome: A search for expressed sequences

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134814

Pritchard, M; Fuentes, J J; Bosch, A ^[1]

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1. I.R.O. Hospital Duran i Reynals, Barcelona, Catalonia (Spain); and others

Down Syndrome (DS) is a major cause of congenital heart disease and mental retardation. The most common anomaly is an extra copy of human chromosome 21 (HC21); however, chromosomal studies in rare patients with partial trisomy 21 have defined a minimal region for DS, including human chromosome 21 bands q22.2-q22.3. The study of genes in this chromosomal region will allow the elucidation of the biochemical and molecular bases for several of the distinct phenotypic traits of the syndrome. This information is the key to the design of therapeutic, pharmacological and genetic tools to counter the effects of three copies of chromosome 21 in the cells of DS patients. Towards this goal, we aim to build a transcriptional map of this region and then characterize any genes isolated. We are using two methods to isolate expressed sequences: (1) Alu-splice consensus PCR (2) cDNA hybridizsation selection. We use as starting material, YACs (CEPH/Genethon) from the specified region and cosmid minilibraries constructed from these YACs. Products are subcloned, sequenced and analyzed in the sequence databases. Several homologies with reported expressed sequences have been found and will be discussed. The HC21 origin of these putative expressed sequences is determined and they are then used to initially screen a human fetal brain full-length cDNA library. We have isolated several cDNAs and these are now being analyzed.

• OSTI ID: 134814
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CARDIOVASCULAR DISEASES
CHROMOSOMAL ABERRATIONS
CONGENITAL DISEASES
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
DOWNS SYNDROME
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 21
MENTAL DISORDERS
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
SPLICING
TRANSCRIPTION
YEASTS