medical dna

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    mtDNA up/downregulates autosomal genes related to cancer, methylation and immunity

    Role of STING complex in differential retrograde signaling in cybrids with K versus H haplogroup mtDNA Abstract Mitochondrial (mt) DNA haplogroups, defined by specific single nucleotide polymorphism (SNPs) patterns, represent populations of diverse geographic origins and may play a role in...
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    Tracing back the ancient origins of Cystic Fibrosis

    Here is a long article published by the researcher himself in The Conversation about the presumed origins of cystic fibrosis, the most common genetic disease among people of European descent. Discovering the ancient origin of cystic fibrosis, the most common genetic disease in Caucasians...
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    Veritas Genetics announced whole genome with 23andMe-like health reports for $999

    Veritas Genetics, a company co-founded by renowned Harvard geneticist George Church, will soon offer whole genome sequencing for $999. Here is the official announcement. A few noteworthy quotes: To avoid the legal problems encountered by 23andMe, they will require that the test is ordered by...
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    HLA-DR14 : distribution map, subtypes, SNPs and associated medical conditions

    Here is a map showing the allele frequency of HLA-DR14. The maximum frequencies are observed in Kosovo (8.5%), Albania (7.5%), South Italy (7.5%), Georgia (7.5%), Romania (7%), Macedonia (6.7%), Greece (6.5% but 4% in Crete), Armenia (6.5%). DR14 is virtually absent from the Sardinian, Basque...
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    HLA-DR15: distribution map, subtypes, SNPs and associated medical conditions

    Here is a map showing the allele frequency of HLA-DR15. The maximum frequencies are observed in the Pasiegos of Cantabria in northern Spain (32%), the Chuvash of the Volga region (19.5%), Ireland (18.5%), Denmark (18.5%), Brittany (18%), Orkney (18%), Norway (15.5%) and Sweden (15.5%). DR15...
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    HLA-DR3 : distribution map, subtypes, SNPs and associated medical conditions

    Here is a map showing the allele frequency of HLA-DR3. The maximum frequencies are observed in Sardinia (56%), the Basque country (19.5%), Ireland (18%), Morocco (16.5%), Tunisia (16.5%), Libya (15.5%), Saudi Arabia (15.5%), Belgium (15.5%), Wales (15%), Algeria (15%), England/Scotland (14.5%)...
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    HLA-DR16: distribution map, subtypes, SNPs and associated medical conditions

    Here is a map showing the allele frequency of HLA-DR16. The maximum frequencies are observed in the United Emirates (18%), Bulgaria (17.5%), Macedonia (15.5%), Greece (13.5%), Albania (12.5%), Serbia (11%), Croatia (10.5%) and Sardinia (10.5%). It is completely absent from the Saami, Breton...
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    HLA-DR1: distribution map, subtypes, SNPs and associated medical conditions

    Here is a map showing the allele frequency of HLA-DR1. The maximum frequencies are observed in the Volga-Ural region, among the Mari (24%), Chuvash (18.5%), Kostroma Russians (17.5%) and South Ural Russians (16%). Subtypes There are three main subclades of DR1: - DRB1*01:01 : the vast...
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    HLA-A3: distribution map, subtypes, SNPs and associated medical conditions

    Here is a map showing the allele frequency of HLA-A3, which is divided in two subtypes : A3:01 and A3:02. The former is mostly found in Europe, with lower frequencies across the Middle East, Central Asia (Uygurs), India and even isolated parts of Africa (Cameroon). The latter peaks in Georgia...
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    HLA-DQ8 : distribution map, subtypes, SNPs and associated medical conditions

    Here is a map showing the allele frequency of HLA-DQ8. The world's highest frequencies are observed in Central and South America (up to 80%), then in Siberia (11-22%). It has been suggested that a migration from people east of the Urals is responsible for DQ8. The strongest association with...
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    HLA-DQ2 : distribution map, subtypes, SNPs, and associated medical conditions

    Here is a map showing the allele frequency of HLA-DQ2. The world's highest frequencies are observed among the Sardinians (59%), the Basques (48%), the Brahui and Balochi of Pakistan (40%), the Moroccans (35%) and the Saudis (35%). Subtypes HLA-DQ2 comprises two subtypes DQB1*0201 and...
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    HLA-B27 : distribution map and associated medical conditions

    Here is a map showing the allele frequency of HLA-B27. The maximum frequencies are observed among the Saami (20% in northern Sweden, 15% in Norway), then in the rest of Fennoscandia, in Belgium, England and Scotland. HLA-B27 is the most routinely tested HLA types by doctors because carrying...
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    MtDNA haplogroup I may improve light absorbtion and sleep & cut risk of schizophrenia

    MtDNA haplogroup I may improve light absorbtion and sleep & cut risk of schizophrenia I have noticed that haplogroup I (mtDNA) is defined by a rare mutation (T10034C) in tRNA encoding Glycine. This amino acid is a known an inhibitory neurotransmitter in the central nervous system, especially...
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    Test your microbiome with µBiome

    Less than two months ago, it was reported (e.g. here and here) that 90% of the cells in our body were actually microbes, and only 10% were our human cells made by our DNA. Microbes affect our whole existence. We couldn't survive without them. They help us digest food, fight other microbes, and...
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    Prenatal nicotine exposure associated with dyslexia

    Here is a free access article published last month in PLOS Genetics. The authors identified two new dopamine-related genes associated with dyslexia in people exposed to nicotine in utero. Associations of Prenatal Nicotine Exposure and the Dopamine Related Genes ANKK1 and DRD2 to Verbal...
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