Description:
CEPH/UTAH PEDIGREE 1423
INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
HUMAN VARIATION PANEL - EUROPEAN WHITE PANEL OF 8
HUMAN VARIATION PANEL - EUROPEAN WHITE PANEL OF 16
HUMAN VARIATION PANEL - EUROPEAN WHITE PANEL OF 24
NA CUSTOM SERVICE PLATE 02
INTERNATIONAL HAPMAP PROJECT - CEPH [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
CEPH
Repository Linkage Families
Pharmacogenetics
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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UTAH/MORMON
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Family Member
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1
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1 |
Genotypes were generated using (1) the FDA cleared Invader UGT1A1 Molecular Assay and (2) sequencing. |
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| Gene |
UGT1A1 |
| Chromosomal Location |
2q37 |
| Allelic Variant 1 |
191740.0011; GILBERT SYNDROME |
| Identified Mutation |
7 TA Repeats; Beutler et al (Proc Nat Acad Sci 95:8170-8174, 1998) described the variant in the promoter of the UGT1A1 gene that is responsible for most cases of Gilbert syndrome as the presence of 7 instead of 6 thymine-adenine (TA) repeats in the promoter region of the gene. This variant has been designated UGT1A1*28 (Mackenzie et al., Pharmacogenetics 7:255-269,1997). |
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| Gene |
UGT1A1 |
| Chromosomal Location |
2q37 |
| Allelic Variant 2 |
191740.0011; GILBERT SYNDROME |
| Identified Mutation |
7 TA Repeats; Beutler et al (Proc Nat Acad Sci 95:8170-8174, 1998) described the variant in the promoter of the UGT1A1 gene that is responsible for most cases of Gilbert syndrome as the presence of 7 instead of 6 thymine-adenine (TA) repeats in the promoter region of the gene. This variant has been designated UGT1A1*28 (Mackenzie et al., Pharmacogenetics 7:255-269,1997). |
| Remarks |
Father; the number of TA repeats in the UGT1A1 gene are 7 and 7 |
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| PubMed ID: 16237444 |
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| PubMed ID: 15897982 |
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| PubMed ID: 16251465 |
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| PubMed ID: 15718463 |
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| PubMed ID: 16251457 |
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| Meza MM, Yu L, Rodriguez YY, Guild M, Thompson D, Gandolfi AJ, Klimecki WT, Developmentally restricted genetic determinants of human arsenic metabolism: association between urinary methylated arsenic and CYT19 polymorphisms in children Environmental health perspectives113:775-81 2005 |
| PubMed ID: 15929903 |
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| Ramsey CD, Lazarus R, Camargo CA, Weiss ST, Celedón JC, Polymorphisms in the interleukin 17F gene (IL17F) and asthma Genes and immunity6:236-41 2005 |
| PubMed ID: 15703761 |
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| Akey JM, Eberle MA, Rieder MJ, Carlson CS, Shriver MD, Nickerson DA, Kruglyak L, Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol2(10):e286 2004 |
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| PubMed ID: 15184900 |
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