Analysis of two novel cDNAs from the Smith-Magenis syndrome region on chromosome 17

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

OSTI ID:134500

Zhao, Z Y; Lee, C C; Jiralerspong, S ^[1]

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1. Baylor College of Medicine, Houston, TX (United States); and others

Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly/mental retardation syndrome associated with deletion of chromosome 17p11.2. To date, only one gene encoding snRNA U3 has been mapped to this region. Here we report the identification of two novel genes, designated 463 and B9, which have been mapped to the SMS region. A full-length cDNA corresponding to each of these genes has been cloned and sequenced. Deletion analysis has been conducted on somatic cell hybrids retaining the del(17)(p11.2) chromosome from each of 15 SMS patients by PCR of sequence tagged sites for the cDNAs and confirmed by Southern analysis. The gene 463 is deleted in 15/15 patients analyzed to date, whereas the gene B9 is deleted in 10/15 of the patients analyzed. Fluorescence in situ hybridization is used to analyze additional SMS patients for hemizygosity at these loci. A physical map of the region is being constructed to determine the relative location of these cDNAs within 17p11.2. Our studies to date, thus, suggest that although both genes 463 and B9 are located within 17p11.2, gene 463 is more likely to be associated with SMS. Complete and exhaustive definition of the critical interval is required to demonstrate the role and importance of gene 463 in SMS.

• OSTI ID: 134500
• 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
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
DOMINANT MUTATIONS
FLUORESCENCE
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 8
HYBRIDIZATION
MENTAL DISORDERS
PATIENTS
POLYMERASE CHAIN REACTION
SOMATIC CELLS