Assignment of the human Na[sup +]/glucose cotransporter gene SGLT1 to chromosome 22q13. 1

Journal Article · Wed Sep 01 00:00:00 EDT 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1399· OSTI ID:6974220

Turk, E; Klisak, I; Bacallao, R; Sparkes, R S; Wright, E M ^[1]

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1. UCLA School Medicine, Los Angeles, CA (United States)

The Na[sup +]/glucose cotransporter gene SGLT1 encodes the primary carrier protein responsible for the uptake of the dietary sugars glucose and galactose from the intestinal lumen. SGLT1 transport activity is currently exploited in oral rehydration therapy. The 75-kDa glycoprotein is localized in the brush border of the intestinal epithelium and is predicted to comprise 12 membrane spans. In two patients with the autosomal recessive disease glucose/galactose malabsorption, the underlying cause was found to be a missense mutation in SGLT1, and the Asp28 [yields] Asn change was demonstrated in vitro to eliminate SGLT1 transport activity. The SGLT1 gene was previously shown to reside on the distal q arm of chromosome 22(11.2 [yields] qter). The authors have used a cosmid probe for fluorescence in situ hybridization, which refines the localization to 22q13.1, and provide an example of the utility of the SGLT1 probe as a diagnostic for genetic diseases associated with trans-locations of chromosome 22. 18 refs., 2 figs.

• OSTI ID: 6974220
• Journal Information: Genomics; (United States), Vol. 17:3; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
GALACTOSE
MEMBRANE TRANSPORT
GLUCOSE
HUMAN CHROMOSOME 22
GENETIC MAPPING
PORINS
GENE MUTATIONS
AMINO ACID SEQUENCE
CHROMOSOMAL ABERRATIONS
DNA SEQUENCING
ALDEHYDES
CARBOHYDRATES
CHROMOSOMES
HEXOSES
HUMAN CHROMOSOMES
MAPPING
MEMBRANE PROTEINS
MOLECULAR STRUCTURE
MONOSACCHARIDES
MUTATIONS
ORGANIC COMPOUNDS
PROTEINS
SACCHARIDES
STRUCTURAL CHEMICAL ANALYSIS
550400* - Genetics
550900 - Pathology
550200 - Biochemistry