scholarly journals Do All Hemochromatosis Patients Have the Same Origin? A Pilot Study of Mitochondrial DNA and Y-DNA

2011 ◽  
Vol 25 (6) ◽  
pp. 324-326 ◽  
Author(s):  
Caitlin J Symonette ◽  
Paul C Adams
Keyword(s):  
Mitochondrial Dna ◽  
Dna Analysis ◽  
Hereditary Hemochromatosis ◽  
Central Africa ◽  
Chromosome Analysis ◽  
Reference Sequence ◽  
Common Diagnosis ◽  
Ancestral Haplotypes ◽  
Short Tandem Repeat Markers ◽  
Short Tandem

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 theHVR-1genetic 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.

scholarly journals The Y chromosome and its use in forensic DNA analysis

2021 ◽  
Vol 5 (3) ◽  
pp. 427-441
Author(s):  
Denise Syndercombe Court
Keyword(s):  
Y Chromosome ◽  
Dna Analysis ◽  
Chromosome Analysis ◽  
Individual Identification ◽  
Forensic Dna ◽  
Forensic Dna Analysis ◽  
Supplementary Material ◽  
Male Specific ◽  
Short Tandem Repeat Markers ◽  
Short Tandem

Originally relatively ignored in forensic investigations because its genetic analysis lacks inference of individual identification, the value of Y chromosome analysis has been proven in cases of sexual assault, particularly where the amount of material left by a male assailant is limited in comparison with female DNA. All routine analysis of autosomal DNA, however, targets a gene (AMELY) on the Y chromosome in order to identify the sex of the DNA source and this is discussed in the context of the genetic structure of this male-specific chromosome. Short-tandem repeat markers on the chromosome are tested in dedicated multiplexes that have developed over time and these are described alongside international guidance as to their use in a forensic setting. As a marker of lineage, the Y chromosome provides additional tools to assist in the inference of ancestry, both geographical and familial and the value of Y chromosome testing is illustrated through descriptions of cases of criminal and historical interest. A decision to analyse the Y chromosome has to be considered in the context, not only of the circumstances of the case, but also with regard to the ethical questions it might raise, and these are discussed in relation to the cases that have been described in more detail in the accompanying online supplementary material.

Leber Hereditary Optic Neuropathy - Idebenone, Hope of Treatment

2020 ◽  
Vol 70 (12) ◽  
pp. 4244-4247
Keyword(s):  
Mitochondrial Dna ◽  
Visual Field ◽  
Optic Neuropathy ◽  
Mitochondrial Function ◽  
Dna Analysis ◽  
Central Vision ◽  
Leber Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Analysis ◽  
Hereditary Optic Neuropathy

Leber hereditary optical neuropathy (LHON) is part of the class of optic neuropathies in which the mitochondrial function is impaired and is characterized by a painless, subacute, bilateral decrease of the central vision. We shall present the case of two brothers AM aged 31 and AT aged 40 who were diagnosed with LHON and whom we initiated treatment with idebenone 900 mg / day with monitoring at one month and 6 months. The mitochondrial DNA analysis demonstrated the existence of mutations 11778G>A for the mtND4 gene in both patients. Idebenone is a synthetic benzoquinone, analogue of ubiquinone. We found a slight but significant improvement in the visual field in patient AM at one month of treatment. We have not found another case in the literature with an improvement in vision so fast after this treatment, and this has led us to write this article. Keywords: Leber hereditary optical neuropathy (LHON), idebenone, mutations 11778G>A, mtND4 gene

scholarly journals Large-Scale Mitochondrial DNA Analysis of the Domestic Goat Reveals Six Haplogroups with High Diversity

PLoS ONE ◽  
2007 ◽  
Vol 2 (10) ◽  
pp. e1012 ◽  
Author(s):  
Saeid Naderi ◽  
Hamid-Reza Rezaei ◽  
Pierre Taberlet ◽  
Stéphanie Zundel ◽  
Seyed-Abbas Rafat ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Large Scale ◽  
Dna Analysis ◽  
Domestic Goat ◽  
Mitochondrial Dna Analysis ◽  
High Diversity

Validity of the Zygosity Questionnaire and Characteristics of Zygosity-Misdiagnosed Twin Pairs in the Healthy Twin Study of Korea

2010 ◽  
Vol 13 (3) ◽  
pp. 223-230 ◽  
Author(s):  
Yun-Mi Song ◽  
Dong-Hun Lee ◽  
Mi Kyoung Lee ◽  
Kayoung Lee ◽  
Hee Jung Lee ◽  
...  
Keyword(s):  
Twin Study ◽  
Twin Pair ◽  
Correct Diagnosis ◽  
Striking Similarity ◽  
Genotype Information ◽  
Zygosity Questionnaire ◽  
Questionnaire Method ◽  
Short Tandem Repeat Markers ◽  
Mz Twins ◽  
Short Tandem

AbstractDetermining valid zygosity is a basic and important requirement in a twin study, because misdiagnosing zygosity leads to biased results. The Healthy Twin Study has collected data from adult like-sex twins and their families since 2005. In the study, a questionnaire to determine zygosity was developed comprising four questions; one concerning the degree of resemblance, and three concerning the degree of confusion by the resemblance. Among 2,761 individuals (624 twin pairs) of twin and their families, 406 pairs of twins (mean age 38.3, 63.5% women) with both questionnaire and genotype information were selected to examine the validity of the zygosity questionnaire using 16 short tandem repeat markers. We first determined individual zygosity including undetermined category, and then decided the zygosity of a twin pair using a decision tree. Sensitivity of questionnaire diagnosis was 98.8% for monozygotic (MZ) and 88.9% for dizygotic (DZ) twins, and positive predictive value was 97.2% for MZ and 95.0% for DZ. When we compared correctly and wrongly diagnosed twin pairs, misdiagnosed DZ twins (nine pairs) showed striking similarity in stature or obesity even exceeding that of true MZ twins. Our finding suggests that a parsimonious questionnaire method of diagnosing the zygosity will be useful, and adding physical or physiological measurements to a questionnaire of zygosity diagnosis will either confound the correct diagnosis or reduce the efficiency of the study compared with using questionnaire alone or with introducing genotyping.

scholarly journals Different Evolutionary History for Basque Diaspora Populations in USA and Argentina Unveiled by Mitochondrial DNA Analysis

PLoS ONE ◽  
2015 ◽  
Vol 10 (12) ◽  
pp. e0144919 ◽  
Author(s):  
Miriam Baeta ◽  
Carolina Núñez ◽  
Sergio Cardoso ◽  
Leire Palencia-Madrid ◽  
Sergio Piñeiro-Hermida ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Evolutionary History ◽  
Dna Analysis ◽  
Mitochondrial Dna Analysis
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