Molecular basis and consequences of a deletion in the amelogenin gene, analyzed by capture PCR

Journal Article · Thu Jul 01 04:00:00 EDT 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1287· OSTI ID:6955652

Lagerstroem-Fermer, M; Pettersson, U; Landegren, U ^[1]

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1. Univ. of Uppsala (Sweden)

A mutation that disrupts the gene for one of the major proteins in tooth enamel has been investigated. The mutation is located in the amelogenin gene and causes X-linked amelogenesis imperfecta, characterized by defective mineralization of tooth enamel. The authors have isolated the breakpoints of a 5-kb deletion in the amelogenin gene on the basis of nucleotide sequence information located upstream of the lesion, using a technique termed capture PCR. The deletion removes five of the seven exons, spanning from the second intron to the last exon. Only the first two codons for the mature protein remain, consistent with the relatively severe phenotype of affected individuals in the present family. The mutation appears to have arisen as an illegitimate recombination event since of 11 nucleotide positions immediately surrounding the two breakpoints, 9 are identical. 17 refs., 3 figs., 1 tab.

• OSTI ID: 6955652
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 17:1; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
DIGESTIVE SYSTEM
DNA SEQUENCING
GENE AMPLIFICATION
GENE MUTATIONS
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
MINERALIZATION
MUTATIONS
ORAL CAVITY
POLYMERASE CHAIN REACTION
STRUCTURAL CHEMICAL ANALYSIS
TEETH
X CHROMOSOME