Abstract:
:PCR primers specific to the human liver fructose-1,6-bisphosphatase (FBP) gene were designed and used to isolate a cosmid clone. Physical mapping of the FBP cosmid by FISH, and genetic mapping of an associated GA repeat polymorphism (PIC = 0.35), located the liver FBP gene to chromosome 9q22.3 with no recombination between FBP and the index markers D9S196 (Zmax = 13.2), D9S280 (Zmax = 11.7), D9S287 (Zmax = 15.6), and D9S176 (Zmax = 14.4). Amplification using FBP exon-specific primers with a YAC contig from this region of chromosome 9 further refined the placement of FBP genomic sequences to an approximately 1.7-cM region flanked by D9S280 and D9S287, near the gene for Fanconi anemia group C. Precise localization of the FBP gene enabled evaluation of FBP as a candidate gene for maturity-onset diabetes of the young (MODY) and non-insulin-dependent diabetes (NIDDM) in both Caucasian and African-American families, using the highly informative markers D9S287 and D9S176. Although FBP is a rate-limiting enzyme in gluconeogenesis, using both parametric and nonparametric analysis there was no evidence for linkage of FBP to diabetes in these families.
journal_name
Genomicsjournal_title
Genomicsauthors
Rothschild CB,Freedman BI,Hodge R,Rao PN,Pettenati MJ,Anderson RA,Akots G,Qadri A,Roh B,Fajans SSdoi
10.1006/geno.1995.1230subject
Has Abstract,Author List Incompletepub_date
1995-09-01 00:00:00pages
187-94issue
1eissn
0888-7543issn
1089-8646pii
S088875438571230Xjournal_volume
29pub_type
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