Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL [+-] P)

Journal Article · Mon Nov 01 00:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:5439984

Shaw, D; Field, L ^[1]; Ray, A ^[2]; Marazita, M ^[3]

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1. Univ. of Calgary (Canada)
2. Univ. of Toronto (Canada)
3. Medical College of Virginia, Richmond, VA (United States)

Chenevix-Trench et al. (1992) reported a significant difference between nonsyndromic cleft lip with or without cleft palate (CL [+-] P) cases and unrelated controls in the frequency of alleles at the retinoic acid receptor alpha (RARA) PstI RFLP located at 17q21.1. They also observed borderline significant (P = .055) differences between allele frequencies in subjects with cleft lip and palate (CL + P) compared with those with cleft lip only (CL). Retinoic acid (RA) is a known teratogen capable of producing cleft palate in rodents (Abbott and Birnbaum 1990). Chenevix-Tench et al. (1992) hypothesized that variation in susceptibility to the effects of RA in humans may result from alterations at the RARA locus. We have investigated association and linkage between CL [+-] P and a microsatellite marker (D17S579) located at 17q21 (Hall et al. 1992), selected for its proximity to RARA, in 14 extended multiplex families from rural West Bengal, India.

• OSTI ID: 5439984
• Journal Information: American Journal of Human Genetics; (United States), Vol. 53:5; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN CHROMOSOME 17
GENETIC MAPPING
RECEPTORS
GENES
RETINOIC ACID
BIOLOGICAL EFFECTS
CONGENITAL MALFORMATIONS
ORAL CAVITY
CARBOXYLIC ACID ESTERS
CHROMOSOMES
DIGESTIVE SYSTEM
ESTERS
HUMAN CHROMOSOMES
MALFORMATIONS
MAPPING
MEMBRANE PROTEINS
ORGANIC COMPOUNDS
PATHOLOGICAL CHANGES
PROTEINS
550400* - Genetics
550900 - Pathology