After the identification of the human interferon-gamma (IFNG) variant G54D (c.287G>A, ss105106770) in DNA samples from Ghana, West Africa, systematic mutation screening of IFNG by the LightCycler®-based procedure of high-resolution melting (HRM) revealed additional rare mutations. All variants occurred heterozygously only and were confirmed either by their detection in other individuals and/or by repeated DNA sequencing of independent PCR products.
Get full access to this article
View all access options for this article.
References
1.
BaiJ, LinM, ZengX, ZhangY, WangZ, ShenJ, JiangL, GaoF, ChenQ.2008. Association of polymorphisms in the human IFN-gamma and IL-4 gene with oral lichen planus: a study in an ethnic Chinese cohort. J Interferon Cytokine Res, 28:351–358.
2.
DingS, LiL, ZhuX.2008. Polymorphism of the interferon-gamma gene and risk of tuberculosis in a southeastern Chinese population. Hum Immunol, 69:129–133.
3.
GregoriusHR.1980. The probability of losing an allele when diploid genotypes are sampled. Biometrics, 36:643–652.
4.
HaydenC, PereiraE, RyeP, PalmerL, GibsonN, PalenqueM, HagelI, LynchN, GoldblattJ, LesouëfP.1997. Mutation screening of interferon-gamma (IFNgamma) as a candidate gene for asthma. Clin Exp Allergy, 27:1412–1416.
5.
HirankarnN, TangwattanachuleepornM, WongpiyabovornJ, WongchinsriJ, AvihingsanonY.2009. Association of IL-18 gene polymorphism (-137C) with arthritis manifestations in SLE: combined effect with IFN gamma gene polymorphism (+874A). Clin Rheumatol, 28:219–223.
6.
Khani-HanjaniA, LacailleD, HoarD, ChalmersA, HorsmanD, AndersonM, BalshawR, KeownPA.2000. Association between dinucleotide repeat in non-coding region of interferon-gamma gene and susceptibility to, and severity of, rheumatoid arthritis. Lancet, 356:820–825.
7.
LinsingenRV, BompeixeEP, MaestriCA, CarvalhoNS, MgB.2009. IFNG (+874 T/A) polymorphism and cervical intraepithelial neoplasia in Brazilian women. J Interferon Cytokine Res Feb 20. [Epub ahead of print]
8.
PravicaV, AsderakisA, PerreyC, HajeerA, SinnottPJ, HutchinsonIV.1999. In vitro production of IFN-gamma correlates with CA repeat polymorphism in the human IFN-gamma gene. Eur J Immunogenet, 26:1–3.
9.
SchroderK, HertzogPJ, RavasiT, HumeDA.2004. Interferon-gamma: an overview of signals, mechanisms and functions. J Leukoc Biol, 75:163–189.
10.
SmithGD, ChadwickBE, Willmore-PayneC, BentzJS.2008. Detection of epidermal growth factor receptor gene mutations in cytology specimens from patients with non-small cell lung cancer utilising high-resolution melting amplicon analysis. J Clin Pathol, 61:487–493.
11.
TakanoEA, MitchellG, FoxSB, DobrovicA.2008. Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis. BMC Cancer, 8:59.
12.
TanAY, WestermanDA, CarneyDA, SeymourJF, JunejaS, DobrovicA.2008. Detection of NPM1 exon 12 mutations and FLT3 - internal tandem duplications by high resolution melting analysis in normal karyotype acute myeloid leukemia. J Hematol Oncol, 1:10.
13.
ThyeT, IntemannCD, GyapongJ, HorstmannRD, MeyerCG.2009. A structural variant of the human interferon-gamma gene. Tissue. Antigens, 73:287–288.
14.
WalterMR, WindsorWT, NagabhushanTL, LundellDJ, LunnCA, ZauodnyPJ, NarulaSK.1995. Crystal structure of a complex between interferon-gamma and its soluble high-affinity receptor. Nature, 376:230–235.