Haptoglobin Gene Subtyping by Restriction Enzyme Analysis

Koch, Werner; Latz, Wolfgang; Eichinger, Marianne; Gschwendner, Claudia; Teige, Brita; Schömig, Albert; Kastrati, Adnan

doi:10.1373/clinchem.2003.022442

Cited by 17 publications

(15 citation statements)

References 19 publications

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“…The loci corresponding to the α and β chains are linked to each other so that a single mRNA molecule generates a large polypeptide chain that is then cleaved to yield the two Hp chains (Raugei et al, 1983;Koch et al, 2003).…”

Section: Haptoglobin Genesmentioning

confidence: 99%

“…Starch gels were subsequently replaced by polyacrylamide gels (Peacock et al, 1965). Haptoglobin subtyping has also been done by isoelectric focusing and enzyme-linked immunosorbent assay (ELISA) (Leaback and Walker, 1971;Yokoi and Sagisaka, 1990;, while molecular methods, such as the polymerase chain reaction (PCR), have been used to determine Hp genotypes (Yano et al, 1998;Koch et al, 2002Koch et al, , 2003. Genotyping methods have the distinct advantage of being useful even when the Hp levels are low (Delanghe and De Buyzere, 2004).…”

Section: Quantification Phenotyping and Genotyping Of Hpmentioning

confidence: 99%

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Polymorphism of human haptoglobin and its clinical importance

2008

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Haptoglobin (Hp) is a plasma glycoprotein, the main biological function of which is to bind free hemoglobin (Hb) and prevent the loss of iron and subsequent kidney damage following intravascular hemolysis. Haptoglobin is also a positive acute-phase protein with immunomodulatory properties. In humans, the HP locus is polymorphic, with two codominant alleles (HP1 and HP2) that yield three distinct genotypes/phenotypes (Hp1-1, Hp2-1 and Hp2-2). The corresponding proteins have structural and functional differences that may influence the susceptibility and/or outcome in several diseases. This article summarizes the available data on the structure and functions of Hp and the possible effects of Hp polymorphism in a number of important human disorders.

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Section: Haptoglobin Genesmentioning

confidence: 99%

Section: Quantification Phenotyping and Genotyping Of Hpmentioning

confidence: 99%

Polymorphism of human haptoglobin and its clinical importance

2008

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“…This method determines the Hp1 and Hp2 alleles but does not distinguish between the “F” and “S” subtypes of the Hp1 and Hp2 alleles. It therefore avoids potential misclassification based on the presence of these sub-types in different populations [57]. PCR products were resolved by agarose gel electrophoresis and visualised under UV light.…”

Section: Methodsmentioning

confidence: 99%

Haptoglobin and Sickle Cell Polymorphisms and Risk of Active Trachoma in Gambian Children

et al. 2010

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BackgroundSusceptibility and resistance to trachoma, the leading infectious cause of blindness, have been associated with a range of host genetic factors. In vitro studies of the causative organism, Chlamydia trachomatis, demonstrate that iron availability regulates its growth, suggesting that host genes involved in regulating iron status and/or availability may modulate the risk of trachoma. The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children.Methodology and Principal FindingsIn two cross sectional surveys of children aged 6–78 months (n = 836), the prevalence of the clinical signs of active trachoma was 21.4%. Within boys, haplotype E (-101G, -61A, Hp1), containing the variant allele of the -101C-G promoter SNP, was associated with a two-fold increased risk of active trachoma (OR = 2.0 [1.17–3.44]). Within girls, an opposite association was non-significant (OR = 0.58 [0.32–1.04]; P = 0.07) and the interaction by sex was statistically significant (P = 0.001). There was no association between trachoma and HbAS.ConclusionsThese data indicate that genetic variation in Hp may affect susceptibility to active trachoma differentially by sex in The Gambia.

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“…PCR methods were used to analyze the Hp 1 and Hp 2 alleles as described previously (12,13). Primers Hp-del-U and Hp-del-L were used for amplification of a 315-base pair (bp) Hp 0 allele-specific sequence.…”

Section: Hp Genotyping Based On Polymerase Chain Reaction (Pcr)mentioning

confidence: 99%