VALUE OF GENETIC TESTING IN THE MANAGEMENT OF PANCREATITIS
- Polymorphisms in the 5'-untranslated region of the human serotonin receptor 1B (HTR1B) gene affect gene expression. Duan, J.; Sanders, A. R.; Moien, J. E.Vander; Martinolich, L.; Mowry, B. J.; Levinson, D. F.; Crowe, R. R.; Silverman, J. M.; Gejman, P. V. // Molecular Psychiatry;2003, Vol. 8 Issue 11, p901
We present evidence of complex balancing regulation of HTR1B transcription by common polymorphisms in its promoter. Computational analysis of the HTR1B gene predicted that a 5' segment, spanning common DNA sequence variations, T-261G, A-161T, and -182INS/DEL-181, contained a putative functional...
- Detecting disease rare alleles using single SNPs in families and haplotyping in unrelated subjects from the Genetic Analysis Workshop 17 data. Kraja, Aldi T.; Czajkowski, Jacek; Feitosa, Mary F.; Borecki, Ingrid B.; Province, Michael A. // BMC Proceedings;2011 Supplement 9, Vol. 5 Issue Suppl 9, p1
We present an evaluation of discovery power for two association tests that work well with common alleles but are applied to the Genetic Analysis Workshop 17 simulations with rare causative single-nucleotide polymorphisms (SNPs) (minor allele frequency [MAF] < 1%). The methods used were...
- CA repeat polymorphism in the promoter region of the COL1A2 gene. Dietzsch, Erin; Parker, M. Iqbal // Journal of Human Genetics;1999, Vol. 44 Issue 6, p419
Abstract A polymorphic CA dinucleotide repeat sequence has been identified within the promoter of the human alpha 2(I) procollagen gene, located at 7q21.3-q22.1. Nine alleles have been identified in unrelated individuals and the observed heterozygosity for the polymorphism was 0.66. This marker...
- Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene. Soucek, Pavel; Skjelbred, Camilla Furu; Svendsen, Marit; Kristensen, Tom; Kure, Elin H.; Kristensen, Vessela N. // BMC Biotechnology;2004, Vol. 4, p28
Background: Fast, cheap and reliable methods are needed to identify large populations, which may be at risk in relation to environmental exposure. Polymorphisms in NAT1 (N-acetyl transferase) may be suitable markers to identify individuals at risk. Results: A strategy allowing to address...
- Homozygous mutation Arg[sub 768]Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. Materna, Verena; Lage, Hermann // Journal of Human Genetics;2003, Vol. 48 Issue 9, p484
Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia and caused by mutations of the ATP-binding cassette (ABC) transporter encoding gene MRP2/cMOAT/ABCC2. Previous studies reported on mutations in DJS patients and polymorphisms in healthy...
- A polymorphic CA repeat marker at the human 27-kD calbindin (CALB1) locus. Morishima, Ken-ichi; Matsuura, Shinya; Tauchi, Hiroshi; Nakamura, Asako; Komatsu, Kenshi // Journal of Human Genetics;1999, Vol. 44 Issue 6, p414
Abstract A polymorphic dinucleotide (CA) sequence was isolated from a BAC clone containing the human 27-kD calbindin (CALB1) gene at 8q21. This polymorphism will be a useful genetic marker to study genetic variations of the CALB1 gene.
- Analysis on DNA sequence of goat RFRP gene and its possible association with average daily sunshine duration. Huang, D.; Di, R.; Wang, J.; Chu, M.; He, J.; Cao, G.; Fang, L.; Feng, T.; Li, N. // Molecular Biology Reports;Sep2012, Vol. 39 Issue 9, p9167
Goat RFRP gene was cloned and its mutations were detected in thirteen goat breeds whose reproductive seasonality and litter size were different. Then sequence characteristics were analyzed and association analyses were performed to reveal the relationships between mutations of RFRP gene and...
- Sampling SNPs. Yang, Zhiyong; Ka-Shu Wong, Gane; Eberle, Michael A.; Kibukawa, Miho; Passey, Douglas A.; Hughes, William R.; Kruglyak, Leonid; Yu, Jun // Nature Genetics;Sep2000, Vol. 26 Issue 1, p13
Focuses on the launch of projects to study single-nucleotide polymorphism (SNP). DNA sequencing; Rate of SNP; Analysis of alleles.
- Using SNP Analysis for a Clinical Look at Disease. Gywnne, Peter // Drug Discovery & Development;Jan2003, Vol. 6 Issue 1, p45
Focuses on the use of single-nucleotide polymorphism analysis to determine the genetic basis of a disease. Facilitation of patient care; Benefits from the sequencing of human genome. INSET: Several SNPs in a Single Tube.