Characterization of a common deletion polymorphism of the UGT2B17 gene linked to UGT2B15.
Members of the human UDP-glucuronosyltransferase 2B family are located in a cluster on chromosome 4q13 and code for enzymes whose gene products are responsible for the normal catabolism of steroid hormones. Two members of this family, UGT2B15 and UGT2B17, share over 95% sequence identity. However, UGT2B17 exhibits broader substrate specificity due to a single amino acid difference. Using gene-specific primers to explore the genomic organization of these two genes, it was determined that UGT2B17 is absent in some human DNA samples. The gene-specific primers demonstrated the presence or absence of a 150 kb genomic interval spanning the entire UGT2B17 gene, revealing that UGT2B17 is present in the human genome as a deletion polymorphism linked to UGT2B15. Furthermore, it is shown that the UGT2B17 deletion polymorphism shows Mendelian segregation and allele frequencies that differ between African Americans and Caucasians.
Wilson
Willie
W
Cancer Research Program, JLC-Biomedical/Biotechnology Research Institute, North Carolina Central University, 1801 Fayetteville Street, Durham, NC 27707, USA.
Pardo-Manuel de Villena
Fernando
F
Lyn-Cook
Beverly D
BD
Chatterjee
Pradeep K
PK
Bell
Timothy A
TA
Detwiler
David A
DA
Gilmore
Rodney C
RC
Valladeras
Isis C
IC
Wright
Camille C
CC
Threadgill
David W
DW
Grant
Delores J
DJ
D001741:Black or African American / Q000235:genetics; D020090:Chromosome Segregation; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D008040:Genetic Linkage; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D008297:Male; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics
D007527:Isoenzymes; D014453:Glucuronosyltransferase; C472000:UDP-glucuronosyltransferase 2B15, human