Overexpression of esterase D in kidney from trisomy 13 fetuses

Journal Article · Fri Oct 01 04:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:5052691

Loughna, S; Moore, G ^[1]; Gau, G; Blunt, S ^[2]; Nicolaides, K ^[3]

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1. Institute of Obstetrics and Gynaecology, London (United Kingdom)
2. Cytogenetics Lab., London (United Kingdom)
3. King's College School of Medicine and Dentistry, London (United Kingdom)

Human trisomy 13 (Patau syndrome) occurs in approximately 1 in 5,000 live births. It is compatible with life, but prolonged survival is rare. Anomalies often involve the urogenital, cardiac, craniofacial, and central nervous systems. It is possible that these abnormalities may be due to the overexpression of developmentally important genes on chromosome 13. The expression of esterase D (localized to chromosome 13q14.11) has been investigated in both muscle and kidney from trisomy 13 fetuses and has been compared with normal age- and sex-matched fetal tissues, by using northern analysis. More than a twofold increase in expression of esterase D was found in the kidney of two trisomy 13 fetuses, with normal levels in a third. Overexpression was not seen in the muscle tissues from these fetuses. 34 refs., 3 figs., 2 tabs.

• OSTI ID: 5052691
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 53:4; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANEUPLOIDY
CHROMOSOMES
CONGENITAL MALFORMATIONS
ENZYMES
ESTERASES
GENE REGULATION
HUMAN CHROMOSOME 13
HUMAN CHROMOSOMES
HYDROLASES
MALFORMATIONS
ORGANIC COMPOUNDS
PATHOLOGICAL CHANGES
PLOIDY
PROTEINS