Linkage Disequilibrium

Awadalla, P. et al. (1999) Linkage disequilibrium and recombination in hominid mitochondrial DNA. Science 286: 2524-2525.

Brown, M.D., Starikovskaya, Y.B., Derbeneva, O., Hosseini, S., Allen, J.C., Mikhailovskaya, I.E., Sukernik, R.I., Wallace, D.C. (2002) “The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup J”. Human Genetics. 110 (2): 130-138

Castro, M.G. et al. (2007). Mitochondrial haplogroup T is negatively associated with the status of elite endurance athlete. Mitochondrion. 2007 Sep;7(5):354-7.

Cummins, J. (2001). Mitochondrial DNA and the Y Chromosome:  Parallels and Paradoxes. Reprod Fertil Dev. 13/7-8:533-42.

Dato, S. et al. (2004) Association of the mitochondrial DNA haplogroup J with longevity is population specific. Eur J Hum Genet. 12(12):1080-2. True of Finnish, Irish and northern Italians but not southern Italians.

de la Chapelle A: Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 1993, 30:857-865. [PubMed Abstract]

Cohn, J.N. (2006). The use of race and ethnicity in medicine: lessons from the African-American Heart Failure Trial. J Law Med Ethics 34/3:552-4.

Finnilä, S. et al. (2001). Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using sequence data on the entire coding region. Mutat Res. 458/1-2:31-9. U5 particularly susceptable.

Finnilä, S. et al. (2000) Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gen electrophoresis. Am. J. Hum. Genet. 68: 1475-84. “…all of the 22 samples with 12308A→G belonged to subcluster U5 (Richards et al. 1998; Macaulay et al. 1999), suggesting that haplogroup U is quite restricted in its variation in Finland. U, esp. U5, and K are implicated.

Finsterer, J. (2007). Hematological Manifestations of Primary Mitochondrial Disorders. Acta Haematol. 118/2:88-98. Blood cell therapy with  cell substitution, antioxidants and other means may be possible to treat mitochondrial diseases such as Leber’s Hereditary Optic Neuropathy (LHON), Kearns-Sayre Syndrome (anemia) and other disorders.

Goldman, D. et al. (1997). Linkage and Association of a Functional DRD2 Variant [Ser311Cys] and DRD2 Markers to Alcoholism, Substance Abuse and Schizophrenia in Southwestern American Indians. Am J Med Genet 74:386-94.

Goldstein, D.B., and Weale, M.E. (2001) Population genomics: Linkage disequilibrium holds the key. Curr. Biol 11, R576-579.

Goodman, R.M. (1978). Genetic disorders among the Jewish people. Baltimore: John Hopkins University Press.

Houshmand, M. et al. (2005). Population screening for association of mitochondrial haplogroups BM, J, K and M with multiple sclerosis: interrelation between haplogroup J and MS in Persian patients. Mult Scler. 11(6):728-30.

Hofmann S. et al. (1997). Population Genetics and Disease Susceptibility:  Characterization of Central European Haplogroups by mtDNA Gene Mutations, Correlation with D Loop Variants and Association with Disease. Hum Mol Genet 6:1835-46.

Jewish Genetic Diseases, a Mazornet guide. Includes: Breast and Ovarian Cancers, Colon Cancer, Cystic Fibrosis, Familial Mediterranean Fever, Gaucher Disease, Machado Joseph Disease, Tay-Sachs Disease, and Ulcerative Colitis.

Kalaydjieva Luba et al. (2001). Genetic studies of the Roma (Gypsies): a review. BMC Medical Genetics 2:5

Lee, M.S. and Levin, B.C. (2002) MitoAnalyzer, a computer program and interactive web site to determine the effects of single nucleotide polymorphisms and mutations in human mitochondrial DNA. Mitochondrion 1: 321-26.

Liu, V. W., Shi, H. H., Cheung, A. N., Chiu, P. M., Leung, T. W., Nagley, P., Wong, L. C., Ngan, H. Y. (2001) “High incidence of somatic mitochondrial DNA mutations in human ovarian carcinomas”. Cancer Research. 61 (16): 5998-6001.

Lu, C. et al. (2007). The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese. J Hum Genet. 52/8:659-63.

Martino, Tina et al. (1997). Probable identity by descent and discovery of familial relationships by means of a rare beta-thalassemia haplotype. Human Mutation 9:86-87. Classic study of disease also known as Cooley’s or Cooper’s anemia, found among Ashkenazic Jews.

Mankuso, M. et al. (2004) Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? Neurosci Lett. 23;371(2-3):158-62.

Maruszak A. et al. (2008). Mitochondrial haplogroup H and Alzheimer’s disease-Is there a connection? Neurobiol Aging. [Epub ahead of print].

Mattevi, V.S. et al. (2000). Association of the Low-Density Receptor Gene with Obesity in Native American Populations. Hum Genet 106:546-52.

Montazeri, M., Houshmand, M., Panahi, M. S., Noohi, F., Givtaj, N., Sanati, M. H., Zaklyazminskaya, E. V. (2005) “Investigation of polymorphisms in non-coding region of human mitochondrial DNA in 31 Iranian Hypertrophic Cardiomyopathy (HCM) patients”. Iranian Journal of Biotechnology. 3 (3): 157-162.

Montiel-Sosa, F., Ruiz-Pesini, E., Enriquez, J. A., Marcuello, A., Diez-Sanchez, C., Montoya, J., Wallace, D. C., Lopez-Perez, M. J. (2006) “Differences of sperm motility in mitochondrial DNA haplogroup U sublineages”. Gene. 368C ( ): 21-27 Motulsky AG (1995). Jewish diseases and origins. Nat Genet. 9:99-101. [PubMed Abstract]

Munakata , K. et al. (2004) Mitochondrial DNA 3644T–>C mutation associated with bipolar disorder. Genomics. 84(6):1041-50.

Niemi, A. K. et al. (2003). Mitochondrial DNA polymorphisms associated with longevity in a Finnish population. Hum Genet. 112/29-33. Haplogroups associated with it are UKIJWX.

Peltonen L, Jalanko A, Varilo T(1999). Molecular genetics of the Finnish disease heritage. Hum Mol Genet 8:1913-1923. [PubMed Abstract] [Publisher Full Text]

Povalko, N., Zakharova, E., Rudenskaia, G., Akita, Y., Hirata, K., Toyojiro, M., Koga, Y. (2005) “A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy”. Mitochondrion. 5 (3): 194-199. 100% penetrance of LHON in males inheriting T14484C primary mutation, and four secondary mutations (T4216C, G13708A, G15812A, G15257A), which belong to the European haplogroup J.

Raby, B.A. et al. (2007). A common mitochondrial haplogroup [U] is associated with elevated total serum IgE levels. J Allergy Clin Immunol. 120/2:351-8. U is associated with greater risk for asthma and atopy.

Renier, P. et al. (1999). mtDNA haplogroup J: a contributing factor of optic neuritis. Eur J Hum Genet. 7(3):404-6.

Rosa A. et al. (2007). Mitochondrial Haplogroup H1 Is Protective for Stroke. Poster at 57th Meeting of the American Society of Human Genetics, Oct. 23-27, 2008, San Diego, Calif.

Ruppert, V., Nolte, D., Aschenbrenner, T., Pankuweit, S., Funck, R., Maisch, B. (2004) “Novel point mutations in the mitochondrial DNA detected in patients with dilated cardiomyopathy by screening the whole mitochondrial genome”. Biochemical and Biophysical Research Communications. 318 (2): 535-543

Rybicki, B.S. et al. (2002). The distribution of long range admixture linkage disequilibrium in an African-American population. Hum Hered 53/4:187-96.

Van der Walt et al. (2004) Analysis of European mitochondrial haplogroups with Alzheimer disease risk (Neurosci Lett. 365(1):28-32. Males with haplogroup U show an increased risk of Alzheimer’s Disease, females a decreased risk.