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Origin of celiac disease:How old are predisposing haplotypes?
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作者 Giovanni Gasbarrini olga rickards +6 位作者 Cristina Martínez-Labarga Elsa Pacciani Filiberto Chilleri Lucrezia Laterza Giuseppe Marangi Franco Scaldaferri Antonio Gasbarrini 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第37期5300-5304,共5页
We recently presented the case of a first century AD young woman, found in the archaeological site of Cosa, showing clinical signs of malnutrition, such as short height, osteoporosis, dental enamel hypoplasia and crib... We recently presented the case of a first century AD young woman, found in the archaeological site of Cosa, showing clinical signs of malnutrition, such as short height, osteoporosis, dental enamel hypoplasia and cribra orbitalia, indirect sign of anemia, all strongly suggestive for celiac disease (CD). However, whether these findings were actually associated to CD was not shown based on genetic parameters. To investigate her human leukocyte antigen (HLA) class Ⅱ polymorphism, we extracted DNA from a bone sample and a tooth and genotyped HLA using three HLA-tagging single nucleotide polymorphisms for DQ8, DQ2.2 and DQ2.5, specifically associated to CD. She displayed HLA DQ 2.5, the haplotype associated to the highest risk of CD. This isthe first report showing the presence of a HLA haplotype compatible for CD in archaeological specimens. 展开更多
关键词 Celiac disease Human leukocyte antigen hap-Iotype Ancient DNA Single nucleotide polymorphisms MALABSORPTION
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