Identification of a human specific Alu insertion in the factor XIIIB gene.
The factor XIIIB gene was examined to determine the nature of a previously described 300 bp restriction fragment length polymorphism (RFLP) seen in the human population. Polymerase chain reaction analysis of different regions within the factor XIIIB gene was carried out to define a high resolution map of the region encompassing the polymorphism, followed by DNA sequence analysis. An Alu insertion was found to be the source of this variation. This Alu repeat is a member of the human specific-1 (HS-1) subfamily, although one of the five diagnostic nucleotides is a cattarhine specific (CS) subfamily mutation, suggesting that it may represent an intermediate form in the evolution between these two subfamilies. Subsequently, we developed a PCR-based assay to detect the polymorphism, rendering it a more useful marker for genetic linkage studies and genome mapping. This insertion is also a valuable polymorphism for human population studies, as demonstrated by the large variations in allele frequencies seen in three population groups.
Kass
D H
DH
Department of Biochemistry and Molecular Biology, Louisiana State University Medical Center, New Orleans 70112.
Aleman
C
C
Batzer
M A
MA
Deininger
P L
PL
D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D005176:Factor XIII / Q000235:genetics*; D005787:Gene Frequency; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid; D044465:White People / Q000235:genetics
D005176:Factor XIII; C054380:factor XIIIb