H4: An Introduction

FTDNA-hosted site is mtDNA Haplogroup H Project: H4

Project membership contains a mixed group of results. There are those who have taken only a basic test placing them in Haplogroup H with HVR1 results. There are some who have extended their testing to HVR2. Many have taken the mtDNA Full Genome Sequence test that includes all of the control and coding regions.

All results considered in this section come from members who have taken ether the mtDNA Haplogroup H subclade test, mt-H, or the mtDNA Full Genome Sequence test, FGS, and who are positive for the H4 mutations.

The current tree for Haplogroup H follows Roostalu 2007.

• H {A2706A,C7028C}
  • H*
  • ..
  • H4 {C3992T,T5004C,G9123A}
    • H4a {A4024G,C14365T,A14582G}
      • H4a1 {G8269A}
        • H4a1a {A10044G}
    • H4b {T10166C}
  • ..

Finnila collected 480 samples from Red Cross offices in several Finnish provinces. Of these 188 were Hs using the 7025AluI restriction site. 31 Hs were selected for an mtDNA full sequence. Any H4s found in Finnila would have been classified as H* or H(xH1,xH2). An examination of the full sequences submitted to GenBank reveals that there weren't any H4s in the sample.

Herrnstadt worked with 560 blood samples and frozen brain samples from donors originating in the United States and the British Isles. This paper named for the first time the subclades of H3 and H4. Unfortunately they only sequenced the coding region.

Coble focused on rapid forensic identification by choosing common European HVR results and looking for coding region differences. Study used anonymized samples from the U.S. Armed Forces DNA Identification Laboratory. Ten of the sequences published to Genbank from this study are H4s. See GenBank Sequences page for the sequences.

Achilli used 62 full sequences to examine the established H subclades, H1-H15. The focus of the paper was on the age and origin of H1 and H3. Sample 11 in the tree is an H4.

Brandstätter screened 2214 Western European samples for the H mutations A2706A and C7028C. The 859 Hs then had full sequences run. She used existing GenBank submisions and the new sequences to reevaluate the tree and recomended changes as part of a new screening panel for H subclades.

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