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 · Sun Oct 31 23:00:00 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), Journal Name: American Journal of Human Genetics; (United States) Vol. 53:5; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

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