Identification of a human specificAlu insertion in the factor XIIIB gene |
| |
| Authors: | David H Kass Claudina Aleman Mark A Batzer Prescott L Deininger |
| |
| Institution: | (1) Department of Biochemistry and Molecular Biology, Louisiana State University Medical Center, 1901 Perdido St., 70112 New Orleans, LA, USA;(2) Human Genome Center, L-452, Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, P.O. Box 808, 94551 Livermore, CA, USA;(3) Laboratory of Molecular Genetics, Alton Ochsner Medical Foundation, 70121 New Orleans, LA, USA |
| |
| Abstract: | 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. AnAlu insertion was found to be the source of this variation. ThisAlu 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. |
| |
| Keywords: | dimorphism factor XIIIB human specificAlu repeat |
| 本文献已被 SpringerLink 等数据库收录！ |
|
