Анализ динамических и точковых мутаций при наследственных неврологических заболеваниях
Диссертация
Среди этих болезней наследственные заболевания нервной системы по своей значимости выходят на первый план как в связи с достаточно широкой распространенностью многих из них, так и из-за тоге что они, затрагивая важнейшие функции организма, приводит к ранней инвалидизации, а иногда и смерти больного. Молекулярная природа наследственных болезней нервной системы, их выраженный клинический… Читать ещё >
Содержание
- 1. Введение
- 2. Обзор литературы
- 2. 1. Микросателлитные и минисателлитные повторы в геноме человека: распространенность и нормальный полиморфизм
- 2. 2. Нестабильные повторы в геноме человека и динамические мутации
- 2. 3. Поиск полиморфных тринуклеотидных повторов в геноме человека
- 2. 4. Модели возникновения динамической мутации
- 2. 5. иотоническая дистрофия как заболевание, вызываемое динамической мутацией
- 2. 6. Динамические мутации и формирование клинических проявлений
- 2. 7. Точковые мутации при ДОФА-зависимой торзионной дистонии
- 2. 7. 1. Клиническая характеристика торзионой дистонии
- 2. 7. 2. ДОФА-зависимая торизионная дистония и мутации в гене ГТФ циклогидролазы I
- 3. 1. Выделение ДНК из периферической крови человека
- 3. 2. Реакция кинирования
- 3. 3. Методика проведения ПЦР
- 3. 4. Денатурирующий элуектрофорез в полиакриламидном геле
- 3. 4. 1. Исходные растворы
- 3. 4. 2. Проведение денатурирующего электрофореза в ПААГ
- 3. 5. Определение размера экспансии у больных миотонической дистрофией
- 3. 6. Определение наличия мутации у больных торзионной дистонией
- 3. 7. Статистическая обработка результатов
- 4. 1. Характеристика нормального полиморфизма локуса миотонической дистрофии в различных этнических группах
- 4. 2. Изучение экспансии у больных миотонической дистрофией
- 4. 3. Молекулярно-генетический анализ торзионной дистонии
Список литературы
- Асеев М.В., Скакун В. Н., Баранов B.C. Анализ аллельного полиморфизма четырех коротких тандемных повторов в популяции северо-западного региона России. Генетика, 1995, Т. 31. N 6. С. 839 845.
- Бархатова В.П. Нейротрансмиттеры и экстрапирамидная патология. М. Медицина, 1988. — 176 с.
- Барышева Е.В., Букина A.M., Лимборская С. А., Гинтер Е. К. Анализ генетических расстояний с использованием «фингерпринтов» ДНК человека, выявляемых с помощью ДНК фага М13. Генетика, 1991, т. 27, с.1493−1438.
- Борисова И. А. Сборник научных трудов. Эпидемиология заболеваний нервной системы в Башкирской АССР. Уфа, 1989, издательство МЗ РСФСР, 121 стр.
- Иллариошкин С.Н., Иванова-Смоленская И.А., Маркова Е. Д. Новый механизм мутации у человека: экспансия тринуклеотидны повторов. Генетика, 1995, Т. 31, с. 1478−1489.
- Краснопольская К.Д., Миренбург Т. В. Биохимическая диагностика наследственных болезней. В кн. Диагностика наследственных болезней/ Под ред. С. И. Козловой М. ВОНЦ, 1986 — с. 53−75.
- Маркова Е.Д. Клиника, патогенез и лечение торзионной дистонии. Журнал неврапатологии и психиатрии, 1989, № 8, с. 32−35.
- Микулич А.И. Геногеография сельского населения Белоруссии. 1989, Минск, Наука и техника.
- Ю.Попова С. Н., Шадрина М. И., Фатхлисламова Р. И., Хуснутдинова Э. К., Сломинский П. А., Лимборская С. А. ПЦР анализ микросателлитных ДНК маркеров: возможность ошибочного определения генотипов. Генетика, 1998, т. 34, стр. 843−845.
- Наследственные болезни нервной системы: Руководство для врачей/ под ред. Ю. Е. Вельтищева, П. А. Темина. М.: Медицина, 1998. — 496 с.
- Albanese V., Holbert S., Saada С., et. al. CAG/CTG and CGG/GCC repeats in human brain reference cDNAs: outcome in searching for new dynamic mutations. Genomics, 1998, V. 47, P. 414−418.
- Ashizawa Т., Epstein H.F. Ethnic distribution of myotonic dystrophy gene. Lancet, 1991, V. 338, P. 642−643.
- Baiget M., Basic concepts in molecular genetics. Neurologia., 1995, Suppl V. 1, P. 2−7. Review.
- Bandmann O., et. al. The GTP-cyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study. J. Neurol. Sci., 1996, V. 141, P. 27−32.
- Barcelo J.M., Mahadevan M.S., Tsilfidis C., et. al. Intergenerational stability of the myotonic dystrophy protomutation. Hum. Mol. Genet., 1993, V. 2, P. 705−709.
- Benson M., Pirrotta V. The Drosophila zeste protein binds cooperatively to sites in many gene regulatory regions: implications for transvection and gene regulation. EMBO, 1988, V.7, P. 3907.
- Beyer K., et. al. A novel point mutation in the GTP-cyclohydrolase I gene in Spanish family with hereditary progressive and dopa responsive dystonia. J. Neurol. Neurosurg. Psichiatry, 1997, V. 62, P. 420−421.
- Bidichandani S.J., Ashizawa Т., Patel P.I. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am. J. Hum. Genet., 1998, V. 62, P. 111−121.
- Bouchard J-P., Marcoux S., Gosselin F., et. al. A simple test for the detection of the dysphagia in members of families with oculopharyngeal muscular dystrophy (OPMD). Can. J. Neurol., 1992, V. 19, P. 296−297.
- Brais B., Boushard J-P., Xie Y-G., et al. Short GCG expansions in the PABP2 gene cause oculopharingeal muscular dystrophy. Nature Genetics, 1998, vl8, p.164−167.
- Brook U., et. al. The physical map of chromosome arm 19q: some new assignments, confirmations and re-assessments. Hum Genet., 1991, V. 87, P. 65−72.
- Campuzano V., Montermini L., Molto M.D. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 1996, V. 271, P. 1423−1426.
- Chen R.S., et. al. Dopa-responsive dystonia: clinical and family study in Taiwanese. CLIN. Neurol. Neurosurg., 1996, V. 98, P. 43−46.
- Chung M-Y., Ranum L.P.W., Duvick LA., et. al. Evidence for mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nat. Genet., 1993, V. 5, P. 254−258.
- Conway D., Bain P.G., Warner T.T., et. al. Linkage analysis with chromosome 9 markers in hereditary essential tremor. Mov Disord., 1993, V. 8, P. 374−376.
- Cooper D.N., et. al. The mutation spectrum of single base-pair substitutions causing human genetics disease: patterns and predictions. Hum. Genet., 1990, V. 85, P. 55−74.
- Davies J. D., Yamagata H., Shelbourne P., et. al. Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations. J. Med. Genet., 1992, V. 29, P. 766−769.
- Deka R., Majumder P.P., Shriver M.D., et. al. Distribution of evolution of CTG repeats in the myotonin protein kinase gene in human populations. Genome Res., 1996, V.6, P. 142−154.
- Dib C., Faure S., Fizames C., et. al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature, 1996, V. 14, P. 152−154.
- DiRienzo A., Peterson A.C., Garza J.C., et. al. Mutational processes of simple-sequence repeat loci in human populations. Proc. Natl. Acad. Sci. USA., 1994, V. 91, P. 3166−3170.
- Djian P. Evolution of simple repeats in DNA and their relation to human disease. Cell, 1998, V. 94, P. 155−160.
- Durr A., Stevanin G., Jedynak C.P., et. al. Familial essential tremor and idiopathic torsion dystonia are different genetic entities. Neurology, 1993, V. 43, P. 2212−2214.
- Dutrex M. (GT)n repetitive tracts affect several stages of RecA-promoted recombination. J. Mol. Biol., 1997, V. 237, P. 105−113.
- Eichler E.E., Nelson D.L., 1996. Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human population. Am. J. Med. Genet., v. 64, pp. 220−225.
- Frank-Kamenetskii M.D., Mirkin S.M. Triplex DNA structures. Annu. Rev. Biochem., 1995, V. 64, P. 65−95.
- Fu Y-H., Pizzuti A., Fenwick J., et. al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy, myotonin protein kinase. Science, 1992, V. 255, P. 1256−1258.
- Gacy A. M., et. al. Influence of hairpins on template reannealing at trinucleotide repeat duplexes: a model for slipped DNA. Biochemistry, 1998, V. 37, P. 9426−9434.
- Galjart et.al. Expression of cDNA encoding the human protective protein associated with lysosomal (3-galactosidase and neuraminidase homology to yeast proteases. Cell, 1988, V. 54, P. 755−764.
- Gastier J.M., Pulido J.C., Sunden S., et al. Survey of trinucleotide repeats in the human genome- assessmant of their utility as genetic marcers. Hum. Mol. Genet., 1995, V. 4, P.1829−1836.
- Gellibolian R., Bacolla A., Wells R.D. et. al. Triplet repeat instability and DNA topology: an expansion model based on statistical mechanics. J. Biol. Chem. 1997, V. 227, P. 16 793−16 797.
- Gill P., Jeffreys A.J., Werrett D.J., et. al. Forensic application of DNA fingerprints'. Nature, 1985, V. 318, P. 577−579.
- Giovannine B., Sabbadini G., Di Maio L., et. al. Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers. Hum. Mut., 1997, V. 10, P. 458−464.
- Goldman A., Ramsay M., Jenkins T. New founder haplotypes at the myotonic dystrophy locus in Southern Africa. Am. J. Hum. Genet., 1995, V. 56, P. 1373−1378.
- Gordon N. Dopa-responsive dystonia: a widening spectrum. Dev. Med. Child Neurol., 1996, V. 38, P. 554−559.
- Green H. Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell, 1993, V. 74, P. 955.
- Green H., Djian P. «Amino acid repeats in proteins and the neurological diseases produced by polyglutamine». In Genetic instabilities and hereditary diseases, N.Y., Academic Press, 1998, P. 739−759.
- Hancock J.M., Santibanez-Koref M.F. Trinucleotide expansion disease in the context of micro- and minisatellite evolution. The EMBO Journal, 1998, V. 17, P. 5521−5524.
- Harper P. S. Myotonic dystrophy, 2d ed. WB Saunders, London and Philadelphia, 1989.
- Harper P. S., Harley S.M., Reardon W., et. al. Anticipation of myotonic dystrophy: new light on an old problem. Am. J. Hum. Genet., 1992, V. 51, P. 10−16.
- Hayashi K. PCR-SSCP: a method for detection of mutations. Genet. Anal. Tech. Appl., 1993, V. 9, P. 73−79.
- Hearne C.M., Ghosh S., Todd JA. Microsatellites for lineage analysis of genetic traits. Trends. Genet., 1992, V. 8, P. 288−294.
- Ichinoe H., Blau N., Matalom R., Nagatsu T. Genomic organization of mouse and human GTP cyclohydrolase I genes and mutations found in human gene. Pteridines, 1995, V. 6, P. 104−107.
- Jansen G., Groenen P.J., Bachner D., et. al. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat. Genet., 1996, V. 13, P. 316−324.
- Jeffreys A.J., Brookfield J.F.Y., Semeonoff R., et. al. Positive identificationof an immigration test-case using human DNA fingerprints. Nature, 1985a, V. 317, P. 818−819.
- Jeffreys A.J., Wilson V., Thein S.L. Hypervariable «minisatellite» regions in human DNA. Nature, 1985b, V. 314, P. 67−73.
- Jeffreys A.J., Wilson V., Thein S.L., et. al. Individual-specific «fingerprints» of human DNA. Nature, 1985c, V. 316, P. 76−79.
- Jeffreys A.J., Wilson V., Neumann R., Keyte J., et. al. Amplification of human minisatellites by the polymerase chain reaction: towards DNA fingerprintings of single cells. Nucl. Acids Res., 1988, V. 16, P. 1 095 310 971.
- Jeon B.S. Dopa-responsive dystonia: a syndrome of selective negrostriatal dopaminergic deficiency. J. Korean. Med. Sci., 1997, V. 12, P. 269−279.
- Kalnin V.V., Kalnina O.V., Prosnyak M.I., Raphikov K.S., Limborska SAUse of DNA fingerprinting for human population genetic studies, Mol. Gen. Genet., 1995, V. 247, P. 488−493.
- Kang S., Ohshima K., Jaworski A., Wells RD. CTG triplet repeats from the myotonic dystrophy gene are expanded in Escherichia coli distal to replication origin as a singl large event. J. Mol. Biol., 1996, V. 258, P. 543−547.
- Kang U.J., et. al. The effect of CTP cyclohydrolase 1 on tyrosine hydroxilase expression: implications in DOPA-responsive dystonia. Adv. Neurol., 1998, V. 78, P. 319−324.
- Kawaguchi Y., Okamoto T., Taniwaki M., et. al. CAG expansionsin a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet., 1994, V. 8, P. 221−228.
- Klesert T.R., Otten. A.D., Bird T.D., et. al. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMHAP. Nat. Genet., 1997, V. 16, P. 402−406.
- Knight S., Flannery A., Hirst M. Trinucleotide repeat amplification of a CpG island in FRAXE mental retardation. Cell, 1993, V. 74, P. 127−34.
- Koide R., Ikeuchi I., Onodera O., et. al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat. Genet., 1994, V. 6, P. 9−13.
- La Spada A.R., Wilson E.M., Lubahn D.B., et.al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 1991, V. 352, P. 77−79.
- Lavedan C., Hoffmann-Radvanyi H., Shelbourne P., et. al. Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am. J. Hum. Genet., 1993, V. 52, P. 875−883.
- Louis E.D., Lynch T., Ford B., et. al. Delayed-onset cerebellar syndrome. Arch. Neurol., 1996, V. 53, P. 450−454.
- Mahadevan M.S., Shriver, M.S., Foitzik MA., Surh L.C., et. al. Characterization and polymerase chain reaction (PCR)detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy. Genomics, 1993, V. 15, P. 446−448.
- Martorell L., Monckton D.G., Gamez J., et. al. Progression of somatic CTG repeat length heterogenity in the blood cells of miotonic dystrophy patients. Hum. Molec. Genet., 1998, V. 7, P. 307−312.
- Maurer D.J., Benzow KA., Schut L.J., et. al. Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients. Hum. Mut., 1998, V. 1, P. 874−877.
- McConkie-Rosell A., Lachiewicz A.M., Spiridigliozzi GA., et. al. «Evidence that methylation of the FMR1-locus is responsible for variable phenotypic expression of the fragile X syndrome». Am. J. Hum. Genet., 1993., V. 53, P. 800.
- McKusick VA., Amberger J.S. The morbid anatomy of the human genome: chromosomal location of mutations causing disease. J. Med. Genet., 1994, V. 31, P. 265−279.
- McMurray C.T. Mechanism of DNA expansion. Chromosoma, 1995, V. 104, P. 2−13.
- Nakamoto M., Takebayashi H., Kawaguchi Y., et. al. A CAG/CTG expansion in the normal population. Nat. Genet., 1997, V. 17, P. 385 386.
- Nancarrow J. K, Kremer E, Holman K., et. al. Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science, 1994, V. 264, P. 1938−1941.
- Nelson D.L. Six human genetic disorders involving mutant trinucleotide repeats. Genome Analysis, 1993, V. 7, P. l-24.
- Nestor P., Dennet X., Day B. Proximal myotonic myopathy: a report of a kindred. J. Clin. Neuroscience, V. 5, P. 218−220.
- Novelli C. E., Mahadevan M. S., Barcelo J. M., et. al. High resolution genetic analysis suggests one predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum. Molec. Genet., 1994, V. 3, P. 45−51.
- Nygaard T.G. Dopa-responsive dystonia. Curr. Opin. Neurol., 1995, V. 8, P. 310−313.
- Parrish J.E., Oostra B.A., Verkerk A.J., et. al. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat. Genet, 1994, V. 8, P. 229−235.
- Patel K, et. al. Dopa-responsive dystonia. Arch. Dis. Child, 1995, V. 73, P. 256−257.
- Paulson H. L, Fishbeck. Trinucleotide repeate in neurogenetic disoders. Annu. Rev. Neurosci, 1996, V. 19, P. 79−107.
- Pearson C.E., Eischler E.E., Lorenzetti D., et. al. Interraptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry, 1998, V. 37, P. 2701−2708.
- Pearson C.E., Sinden RR. Trinucleotide repeat DNA structures: dynamic mutations from dynamic DNA. Curr. Opin. Struct. Biol., 1998, V. 8, P. 321−330.
- Pearson C.E., Wang Y.H., Griffith J.D., Sinden R.R. Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n. (CAG)n repeats from the myotonic dystrophy locus. Nucleic Acids Res., 1998, V. 26, P. 816−823.
- Pena S.D.J., Chakraborty R. Paternity testing in the DNA era. Trends in Genet., 1994, V.10, P. 204−210.
- Pennacchio L.A., Lehesjoki A-E., Stone N.E., et. al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science, 1996, V. 271, P. 1731−1734
- Ranum L.P.W., Rasmusen P.F., Benzow KA. et. al. Genetic mapping of a second myotonic dystrophy locus. Nat. Genet., 1998, V. 19, P. 196 198.
- Reddy S., Smith D.B., Rich M.M., et. al. Mice lacking the myotonic dystrophy kinase develop a late onset progressive myopathy. Nat. Genet., 1996, V. 13, P. 325−335.
- Reyniers E., Vits L., De Boulle K., et. al. The full mutation in the FMR-1 gene of male fragile X patients is absent in their srerm. Nat. Genet., 1993, V. 4, P. 143.
- Rich N., et. al. Electromyography of rapid forearm flexion and extension and aging. Int. J. Aging Hum. Dev., 1990, V. 31, P. 11−29.
- Richards R.I., et. al. Simple repeat DNA is not replicated simply. Nat. Genet., 1994, V. 6, P. 114−116.
- Riggins GJ, Lokey L. K, Chastein J. L, et. al. Human genes containing polymorphic trinucleotide repeats. Nat. Genet, 1992, V. 2, P. 186−191.
- Rubinsztein D. S, Leggo J, Amos W, et. al. Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations. Hum. Molec. Genet, 1994, V. 3, P. 2031−2035.
- Schalling M, Hudson T. J, Buetow K. H, Housman D.E. Direct detection of novel expanded trinucleotide repeats in the human genome. Nat. Genet, 1993, V. 4, P. 135−139.
- Sheffield V. C, Weber J. L, Buetow K. H, et. al. A collection of tri-and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum. Mol. Genet, 1995, V. 4, P. 1837−1844.
- Shem-Tov N, et. al. Amplification of trinucleotide repeats new mutation mechanism causing common genetic desiase. Harefuah, 1994, V. 127, P. 268−273.
- Sherman S. L, Jacobs PA, Morton N. E, et. al. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum. Genet, 1985, V. 69, P. 289.
- Sherman S. L, Morton N. E, Jacobs PA. The marker (X) syndrome: a cytogenetic and genetic analisis. Annu. Hum. Genet, 1984, V. 48, P. 21.
- Shriver M.D., Jin L., Chakraborty R., et. al. VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach. Genetics, 1993, V. 134, P. 983−993.
- Silveira I., Countinho P., Maciel P., et. al. Analysis of SCA1, DRPLA, MJD, SCA2 and SCA6 CAG repeats in 48 Portuguese ataxia families. Am. J. Med. Genet., 1998, V. 81, P. 134−138.
- Smith G.K., Jie J., Fox G.E., Gao X. DNA CTG triplet repeats involved in dynamic mutations of neurologically related gene sequences form stable duplexes. Nucleic. Acids. Res., 1995, V. 23, P. 4303−4311.
- Smithies O. Animal models of human genetic diseases. Trends Genet., 1993, V. 9, P. 112−116.
- Stallings R. L. Distribution of trinucleotide microsatellites in different categories of mammalian genomic sequence: implications for human genetic diseases. Genomics, 1994, V. 21, P. 116−121.
- Steinberger D., et. al. High penetrance and pronounsed variation in expressivity of GCH-1 mutations in five families with DOPA-responsive dystonia. Ann. Neurol., 1998, V. 43, P. 634−639.
- Strand M., Prolla TA., Liskay R.M., Petes T.D. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature, 1993, V. 365, P. 274−276.
- Strisciuglio P., et. al. The presence of a reduced amount of 320kd protective protein is a distinct biochemical finding late infantile galactosialidoses. Hum. Genet., 1988, V. 80, P. 304−306.
- Takai S., et. al. Revolution in human gene mapping: linkage analysis using DNA polymorphisms as genetic marcers. Tanpakushitsu Kakusan Koso, 1986, V. 31, P. 1340−1353.
- Tanaka h., et. al. The gene for hereditary progressive dystonia with marked fluctuation maps to chromosome 14q. Ann. Neurol., 1995, V. 37, P. 405−408.
- The Huntington’s Disease Collaborative Research Group. A novel gene, containing a trynucleotide repeat, that is expanded and unstable on Huntington’s Desease. Cell, 1993, V. 72, P. 971−983.
- Thony B. and Blau N. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. Hum. Mut, 1997, V. 10, P. 11−20.
- Tishkoff S. A, Goldman A, Calafell F, et. al. A dlobal haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. Am. J. Hum. Genet, 1998, V. 62, P. 1389−1402.
- Tohgi H, Utsugisawa K, Kawamorita A, et. al. Effects of CTG trinucleotide repeat expansion in leukocytes on quantitative muscle histopathology in myotonic dystrophy. Muscle Nerve, 1997, V. 20, P. 232−234.
- Tome F.M.S, Fardeau M. Ultrastructure of muscle and neuromuscular junction: an historical survey of the early French contributions. Biol. Cell, 1994, V. 80, P. 115−117.
- Valdes A.M., Slatkin N. B, Freimer N.B. Allele frequencies at microsatellite loci: the stepwise mutation model revisited. Genetics, 1993, V. 133, P. 737−749.
- Verkerk A.J.M.H, Pieretti M, Sutellife J. S, et. al. Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X sindrome. Cell, 1991, V. 65, P. 905−914.
- Weber J.L. Informativeness of human (dC-dA)n (dG-dT)n polimorphisms. Genomics, 1990, V. 7, P. .524−530.
- Weber J. L, Wong C. Mutation of human short tandem repeats. Hum. Mol. Genet, 1993, V. 2, P. 1123−1128.
- Weir B.S. Genetic Data Analysis. Sinauer Associates, Sunderland, MA, 1990.
- Wells R.D., et. al. Molecular basis of genetic instability of triplet repeats. J. Biol. Chem., 1996, V. 271, P. 2875−2878.
- Wells R.D., Parnievski P., Pluciennik A., et. al. Small slipped register genetic instabilities in escherichia coli in triplet repeat sequences associated with hereditary neurological diseases. J. Biol. Chem., 1998, V. 273, P. 19 532−19 541.
- White J.K., Auerbach W., Duyao M.P., et. al. Huntingtin is required for neurogenesis and is not impaired by the Huntington’s disease CAG expansion. Nat. Genet., 1997, V. 17, P. 404−410/
- Wrogemann K., et. al. Microsatellites and disease: a new paradigm. EXS, 1993, V. 67, P. 141−152.
- Yamagata H., Miki T., Nakagawa M., et. al. Expansion of unstable DNA region in Japanese myotonic dystrophy patients. Lancet, 1992, V. 339, P.692.
- Yeh F.C., Yang R-C. POPGENE version 1.21.1997. http://www.ualberta.ca/~fyeh
- Zeman W. Et. al. Dystonia: an overview. Adv Neurol., 1976, V. 14, P. 91−103.
- Zerylnick C., Torroni A., Sherman S.L., et. al. Normal variation at the myotonic dystrophy locus in global human populations. Am. J. Hum. Genet., 1995, V. 56, P. 123−130.
- Zilber N. et. al. Inheritance of idiopathic torsion dystonia among Jews. J Med Genet., 1984, V. 21, P. 13−20.