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. 2011 Jun;25(6):324-6.
doi: 10.1155/2011/463810.

Do all hemochromatosis patients have the same origin? An analysis of mitochondrial DNA and Y-DNA

Caitlin J Symonette  1 , Paul C Adams
Affiliations

Do all hemochromatosis patients have the same origin? An analysis of mitochondrial DNA and Y-DNA

Caitlin J Symonette et al. Can J Gastroenterol. 2011 Jun.

Abstract
in English, French

Background: Mitochondrial DNA (mtDNA) and Y-DNA analysis have been widely used to predict ancestral origin. Genetic anthropologists predict that human civilizations may have originated in central Africa one to two million years previously. Primary iron overload is not a common diagnosis among indigenous people of northern Africa, but hereditary hemochromatosis is present in approximately one in 200 people in northern Europe. MtDNA analysis has the potential to determine whether contemporary hemochromatosis patients have an ancient ancestral linkage.

Methods: DNA was obtained from buccal smears for mtDNA and Y-DNA analysis. Y-DNA analysis included examination of 20 short tandem repeat markers on the Y chromosome. Analysis of mtDNA involved sequencing of the HVR-1 genetic sequence (nucleotides 16001 to 16520) and was compared with the Cambridge Reference Sequence. MtDNA ancestral haplotypes were predicted from the analysis of the HVR-1 sequence.

Results: Twenty-six male C282Y homozygotes were studied. There were 28 polymorphisms present in the HVR-1 sequence of these participants. The most common polymorphism was present at position 16519 in 15 participants and at position 16311 in eight participants. There were 12 different ancestral haplotypes predicted by mtDNA analysis, with the K haplotype being present in five participants. Y-DNA analysis revealed eight different haplotypes, with R1b being found in 11 of the 26 participants.

Conclusion: Analysis of mtDNA and Y-DNA in 26 hemochromatosis patients suggested that they did not all originate from the same ancestral tribe in Africa. These findings were consistent with the theory that the original hemochromatosis mutation occurred after migration of these ancestral people to central Europe, possibly 4000 years previously.

HISTORIQUE :: L’analyse de l’ADN mitochondrial (ADNmt) et de l’ADN-Y est largement utilisée pour prédire l’origine ancestrale. Selon les anthropologues génétiques, les civilisations humaines auraient vu le jour en Afrique centrale il y a de un à deux millions d’années. La surcharge en fer primaire n’est pas un diagnostic courant chez les peuples indigènes d’Afrique du Nord, mais on constate une hémochromatose héréditaire chez environ une personne sur 200 en Europe du Nord. L’analyse de l’ADNmt a le potentiel de déterminer si les patients actuels présentant une hémochromatose partagent la même origine ancestrale.

MÉTHODOLOGIE :: Les chercheurs ont fait un prélèvement buccal de l’ADN afin d’analyser l’ADNmt et l’ADN-Y des sujets. L’analyse de l’ADN-Y incluait l’examen de 20 marqueurs répétés courts sur le chromosome Y. L’analyse de l’ADNmt incluait le séquençage génétique HVR-1 (nucléotides 16001 à 16520) et a été comparée à la séquence de référence de Cambridge. Les chercheurs ont prédit les haplotypes d’ADNmt ancestral à partir de l’analyse de la séquence HVR-1.

RÉSULTATS :: Les chercheurs ont étudié 26 homozygotes C282Y mâles. Ils ont observé 28 polymorphismes dans la séquence HVR-1 de ces participants. Le principal polymorphisme était présent à la position 16519 chez 15 participants et à la position 16311 chez huit participants. Ils ont repéré 12 haplotypes ancestraux différents selon l’analyse de l’ADNmt, l’haplotype K étant présent chez cinq participants. L’analyse de l’ADN-Y a révélé huit haplotypes différents, le R1b étant présent chez 11 des 26 participants.

CONCLUSION :: L’analyse de l’ADNmt et de l’ADN-Y chez 26 patients ayant une hémochromatose indiquait qu’ils ne provenaient pas tous de la même tribu ancestrale d’Afrique. Ces observations correspondent à la théorie selon laquelle une mutation de l’hémochromatose originale s’est produite après la migration de ces peuples ancestraux en Europe centrale, il y a peut-être 4 000 ans.

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Figures

Figure 1)
Figure 1)
Mitochondrial DNA haplogroups
Figure 2)
Figure 2)
Y-DNA haplotypes
Figure 3)
Figure 3)
Geographical representation of mitochondrial (mt) DNA haplo-group ancestral origins. Adapted from Genebase mtDNA Haplogroup Migration Map <http://upload.wikimedia.org/wikipedia/commons/b/b7/Europe_topography_map.png>
See this image and copyright information in PMC

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