A restriction fragment of the C2 gene is a unique marker for C2 deficiency and the uncommon C2 allele C2*B (a marker for type 1 diabetes).

Simon, Susan; Awdeh, Zuheir L.; Campbell, R D; Ronco, P; Brink, Stuart; Eisenbarth, George S.; Yunis, Edmond J.; Alper, C. A.

doi:10.1172/jci115545

Cited by 12 publications

(6 citation statements)

References 28 publications

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“…The concept of LD, that is the mathematical prediction of preferential association between alleles at two or more loci, based solely on phenotyped data of unrelated individuals, was described later for this region by Bodmer (39), Piazza (40) and Dausset (11). Studies of MHC haplotypes, defining their boundaries and their frequency, have been conducted in well‐defined populations using families (7–10, 18, 20, 26, 29–35, 41) or random unrelated individuals (23, 29, 30, 42–44). Family studies are performed by directly identifying haplotypes containing inherited alleles or genetic variants of various MHC loci with subsequent haplotype counting.…”

Section: Statistical Analysis Of Mhc Haplotypesmentioning

confidence: 99%

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Inheritable variable sizes of DNA stretches in the human MHC: conserved extended haplotypes and their fragments or blocks

et al. 2003

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The difference in sizes of conserved stretches of DNA sequence within the major histocompatibility complex (MHC) in human individuals constitutes an underappreciated genetic diversity that has many practical implications. We developed a model to describe the variable sizes of stretches of conserved DNA in the MHC using the known frequencies of four different kinds of small (< 0.2 Mb) blocks of relatively conserved DNA sequence: HLA-Cw/B; TNF; complotype; and HLA-DR/DQ. Each of these small blocks is composed of two or more alleles of closely linked loci inherited as one genetic unit. We updated the concept of the conserved extended haplotype (CEH) using HLA allele identification and TNF microsatellites to show that specific combinations of the four blocks form single genetic units (>/= 1.5 Mb) with a total haplotype frequency in the Caucasian population of 0.30. Some CEHs extend to the HLA-A and -DPB1 loci forming fixed genetic units of up to at least 3.2 Mb of DNA. Finally, intermediate fragments of CEHs also exist, which are, nevertheless, larger than any of the four small blocks. This complexity of genetic fixity at various levels should be taken into account in studies of genetic disease association, immune response control, and human diversity. This knowledge could also be used for matching CEHs and their fragments for patients undergoing allotransplantation.

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Section: Statistical Analysis Of Mhc Haplotypesmentioning

confidence: 99%

“…Major histocompatibility complex blocks and CEHs can be used as markers of human diversity, ethnicity and/or nationality (4, 9, 16, 17, 27, 28) and for identification and localization of disease susceptibility genes (10, 16–18, 20, 28–35). The top haplotype in Fig.…”

Section: Caucasian Conserved Extended Haplotypesmentioning

confidence: 99%

Inheritable variable sizes of DNA stretches in the human MHC: conserved extended haplotypes and their fragments or blocks

et al. 2003

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“…In the case of WBC, fasting conditions induced the down-regulation of the mouse pancreatic amylase B-1 gene, 15) the rat carboxypeptidase B gene 16) and the rat cathepsin B gene, 17) which have been reported to be NIDDM-related genes and also induced on up-regulation of the mouse complement component C2 gene which has been reported to be a blood marker of type 1 diabetes. 18) Under insulin administration in WBC, 652 genes, in which their expressions were altered by more than 2-fold in OLETF were screened, and 127 were down-regulated and 525 were up-regulated (Table 1, lower list). Insulin administration induced the down-regulation of the rat carboxypeptidase B gene 16) and the rat tyrosine aminotransferase gene 19) and also induced the up-regulation of the myelin basic protein gene.…”

Section: Gene Expression Profiles In Wbc and Liver Of Oletf And Leto mentioning

confidence: 99%

“…211 genes were down-regulated and 105 genes were up-regulated (Table 2, lower list). Insulin administration induced down-regulation of the mouse complement component C2 gene, 18) the rat apolipoprotein E gene, 21) the rat c-fos gene 23) and the mouse Dvl-2 gene, 24) all of which have been reported to be NIDDM-related genes. Insulin administration also induced the up-regulation of the rat liver stearyl-CoA desaturase which function in lipid metabolism.…”

Section: Gene Expression Profiles In Wbc and Liver Of Oletf And Leto mentioning

confidence: 99%

Genome Wide Expression Analysis of White Blood Cells and Liver of Pre-diabetic Otsuka Long-Evans Tokushima Fatty (OLETF) Rats Using a cDNA Microarray

Iida

Sato

Nakaya

et al. 2006

Biological & Pharmaceutical Bulletin

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In a prior study, we reported on a significant decrease in calpain10 gene expression in white blood cells (WBC) as well as the major insulin-target tissues including liver and adipose tissue, before the onset of diabetes in Otsuka Long-Evans Tokushima Fatty (OLETF) rats. In this study, we extended our hypothesis that some type 2 diabetes mellitus (NIDDM) susceptible genes are up/down-regulated before the onset in WBC of OLETF rats, reflecting their up/down-regulation in major insulin-target tissues, such as the liver. We tested this hypothesis using rat cDNA microarrays. The findings show that 1080 genes are up/down-regulated by more than 2-fold compared to the controls, Long-Evans Tokushima Otsuka rats, before the onset in WBC and liver under fasted or insulin administered condition. Fifty-seven of the 1080 genes were up/down-regulated in both WBC and the liver. More than half have been reported to NIDDM susceptible genes and the remainder have not been reported to be related to NIDDM. These results indicate that there some NIDDM related genes are up/down-regulated in WBC before the onset of diabetes.

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“…The exons encode three major domains, i.e. This suggests that C2QO has mutated from C2B (96). The C2 gene displays four known RFLPs, two of which are multiallelic and give rise to at least nine C2 gene haplotypes (92)(93)(94)(95).…”

Section: Second Component (C2)mentioning

confidence: 99%

Genetic Deficiencies of Complement

Lokki

Colten

1995

Annals of Medicine

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Genetic deficiencies of proteins of the complement system are associated with diverse clinical phenotypes. These clinical manifestations vary as a function of the specific component that is missing. Molecular and cellular biological methods, coupled with more intensive clinical studies, have defined the pathophysiological basis for this set of genetic disorders. Insights into the normal function of complement and its role in immunopathology have been derived from the extensive work in this field during the past few years.

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A restriction fragment of the C2 gene is a unique marker for C2 deficiency and the uncommon C2 allele C2*B (a marker for type 1 diabetes).

Abstract: There are three common C2 protein alleles in caucasians,

Cited by 12 publications

References 28 publications

Inheritable variable sizes of DNA stretches in the human MHC: conserved extended haplotypes and their fragments or blocks

Inheritable variable sizes of DNA stretches in the human MHC: conserved extended haplotypes and their fragments or blocks

Genome Wide Expression Analysis of White Blood Cells and Liver of Pre-diabetic Otsuka Long-Evans Tokushima Fatty (OLETF) Rats Using a cDNA Microarray

Genetic Deficiencies of Complement

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