Presentation is loading. Please wait.

Presentation is loading. Please wait.

Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin  Anna H. Hakonen, Silja Heiskanen,

Published byJoonas Uotila Modified over 6 years ago

Similar presentations

Presentation on theme: "Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin  Anna H. Hakonen, Silja Heiskanen,"— Presentation transcript:

1 Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin  Anna H. Hakonen, Silja Heiskanen, Vesa Juvonen, Ilse Lappalainen, Petri T. Luoma, Maria Rantamäki, Gert Van Goethem, Ann Löfgren, Peter Hackman, Anders Paetau, Seppo Kaakkola, Kari Majamaa, Teppo Varilo, Bjarne Udd, Helena Kääriäinen, Laurence A. Bindoff, Anu Suomalainen  The American Journal of Human Genetics  Volume 77, Issue 3, Pages (September 2005) DOI: /444548 Copyright © 2005 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Haplotypes of the Finnish, Norwegian, British, and Belgian patients. Haplotype A and the core haplotype are shown in pink. Haplotypes B and C are shown in blue and yellow, respectively. a, The DNA marker names are written without “D15S.” Proper names can be obtained by placing “D15S” in front of each number shown. b, Four Finnish patients with haplotypes very similar to that of patient D9 are not shown. c, One Norwegian patient with a haplotype very similar to that of patient P3 is not shown. The American Journal of Human Genetics  , DOI: ( /444548) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Birthplaces of the grandparents of the Finnish patients homozygous for the W748S POLG mutation, on a map of Finland. Haplotype A is concentrated in the late-settlement area, whereas haplotypes B and C cluster solely on the western and southern coastlines. The southeastern Karelia belongs presently to Russia and is therefore indicated as separate on the map. The American Journal of Human Genetics  , DOI: ( /444548) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Download ppt "Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin  Anna H. Hakonen, Silja Heiskanen,"

Similar presentations

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy Alexandra Götz, Henna Tyynismaa, Liliya.

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy Alexandra Götz, Henna Tyynismaa, Liliya.
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.

Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.
A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 D.P. McHale, S. Mitchell, S. Bundey, L. Moynihan, D.A. Campbell,

A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 D.P. McHale, S. Mitchell, S. Bundey, L. Moynihan, D.A. Campbell,
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages 232-237 (January.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.

Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.
Epidemiology of early-onset Parkinson's disease in Finland

Epidemiology of early-onset Parkinson's disease in Finland
A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3  Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,

A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3  Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,
Anna Middleton, J. Hewison, R.F. Mueller 

Anna Middleton, J. Hewison, R.F. Mueller 
LRRK2 G2019S in Families with Parkinson Disease Who Originated from Europe and the Middle East: Evidence of Two Distinct Founding Events Beginning Two.

LRRK2 G2019S in Families with Parkinson Disease Who Originated from Europe and the Middle East: Evidence of Two Distinct Founding Events Beginning Two.
A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family  Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati,

A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family  Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati,
Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Transmission/Disequilibrium Tests for Extended Marker Haplotypes
Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3  Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.

Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3  Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.
Anna Middleton, J. Hewison, R.F. Mueller 

Anna Middleton, J. Hewison, R.F. Mueller 
Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping  Adel Shalata, Hanna Mandel, Jochen.

Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping  Adel Shalata, Hanna Mandel, Jochen.

Similar presentations

Ads by Google