Разработка технологии детекции точечных мутаций на основе аллель-специфической ПЦР с применением автоматических анализаторов ДНК

Список литературы

1. Bertina R.M., Koeleman В.Р., Koster Т., Rosendaal F.R., Dirven R.J., Ronde H., Velden P.A., Reitsma P.H. Mutation in blood coagulation factor V associated with resistance activated protein С // Nature. 1994. V. 369. P.64−67.
2. Rosendaal F.R., Koster Т., Vandenbroulke J.P., Reitsma P.H. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein С resistance) // Blood. 1995. V. 85. P. 1504−1508.
3. Cohen D. Inherited thrombophilia and pregnancy: complications, diagnosis, and treatment // Am. Biotech. Lab. 2002. V. 4. P. 22−24.
4. Gerhardt A., Scharf R.E., Beckmann M.W., Struve S., Bender H.G., Pillny M., Sandmann W., Zotz R.B. Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium // N. Engl. J. Med. 2000. V. 342. P. 374−80.
5. Lin J., August P. Genetic thrombophilias and preeclampsia: a meta-analysis // Obstet. Gynecol. 2005. V. 105. P. 182−192.
6. Hobikoglu G.F., Akyuz U., Akyuz F., Ozer O., Guney D., Narin A., Unaltuna N. Factor V Leiden is a risk factor for myocardial infarction in young Turkish men // Acta. Cardiol. 2004. V. 59. P. 594−597.
7. Seligsohn U., Lubetsky A. Genetic susceptibility to venous thrombosis // N. Eng. J. Med. 2001. V. 344. P. 1222−1231.
8. Gadelha Т., Andre C., Juca A.A., Nucci M. Prothrombin 2021 OA and oral contraceptive use as risk factors for cerebral venous thrombosis // Cerebrovasc. Dis. 2005. V. 19. P. 49−52.
9. McGlennen R.C., Key N.S. Clinical and laboratory management of the prothrombin G20210A mutation //Arch. Pathol. Lab. Med. 2002. V. 126. P. 1319−1325.
10. Botto L.D., Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a huge review // Am. J. Epidemiol. 2000. V. 151. P. 862−877.
11. Park H., Kim Y.J., На E.H., Kim K.N., Chang N. The risk of folate and vitamin В (12) deficiencies associated with hyperhomocysteinemia among pregnant women // Am. J. Perinatol. 2004. V. 21. P. 469−475.
12. Kang S.S., Wong P.W., Bock II.G., Horwitz A., Grix A. Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations // Am. J. Hum. Genet. 1991. V. 48. P. 546−551.
13. Shen H., Newmann A.S., Hu Z., Zhang Z., Xu Y., Wang L., Ни X., Guo J., Wang X., Wei O. Methylenetetrahydrofolate reductase polymorphisms/haplotypes and risk ofgastric cancer: a case-control analysis in China // Oncol. Rep. 2005. V. 13. P. 355−360.
14. Rang S.S., Wong P.W., Susmano A., Sora J., Norusis M., Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease // Am. J. Hum. Genet. 1991. V. 48. P. 536−545.
15. Grody W.W., Telatar M. Multiplex SNP analysis: screening factor V R506Q (Leiden) mutations //Am. Biotech. Lab. 2003. V. 2. P. 34−37.
16. Liew M., Pryor R., Palais R., Meadows C., Erali M., Lyon E., Wittwer C. Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons // Clin. Chem. 2004. V. 50. P. 1156−1164.
17. Чистяков Д.А., Чугунов Jl. А., Шамхалова М. Ш., Шестакова М. В., Миленькая Т. М. Полиморфизм гена сосудистого рецептора ангиотензиногена II и микроангиопатии при инсулинзависимом сахарном диабете // Генетика. 1999. Т. 35. С. 1289−1293.
18. Jeunemaitre X., Soubrier F., Kotelevtsev Y., Liflon R., Williams C., Charru A. Molecular basis of human hypertension: role of angiotensinogen // Cell. 1992. V. 71. P. 169−180.
19. Марри P., Греннер Д., Мейес П., Родуэлл В. Биохимия человека: в 2-х томах. Т. 2. Пер. с англ. // М.: Мир. 1993.415 с.
20. Walker W., Whelton P., Saito IL, Russel R. Relation between blood pressure and renin, renin substrate, angiotensin II, aldosterone and urinary sodium and potassium in 574 ambulatory subjects // Hypertension. 1979. V. 1. P. 287−291.
21. Kang S.S., Wong P.W., Susmano A., Sora J., Norusis M., Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease // Am. J. Hum. Genet. 1991. V. 48. P. 536−545.
22. Schunkert H., Hense II., Gimenez-Roqueplo A., Stieber J., Keil U. The angiotensinogen T235 variant and the use of antihypertensive drugs in a population-based cohort // Hypertension. 1997. V. 29. P. 628−633.
23. Staessen J., Ginocchio G., Wang J., Saavedra A., Soubrier F., Vlietinck R., Fagard R. Genetic variability in the renin-angiotensin system: prevalence of alleles and genotypes // J. Cardiovask. Rise. 1997. V. 4. P. 401−422.
24. Schunkert H., Hense H.W., Gimenez-Roqueplo A.P., Stieber J., Keil U., Riegger G.A., Jeunemaitre X. The angiotensinogen T235 variant and the use of antihypertensive drugs in a population-based cohort. // Hypertension. 1997. V. 29. P. 628−633.
25. Shoji M., Tsutaya S., Takamatu H., Yasujima M. Hypertension and gene polymorphisms // Rinsho. Byori. 2001. V. 49. P. 157−160.
26. Jeunemaitre X., Inoue I., Williams C., Tichet J., Powers M. Ilaplotypes of angiotensinogen in essential hypertension // Am. J. Hum. Genet. 1997. V. 60. P. 1448−1460.
27. Sasaki N. The relationship of salt intake to hypertension in the Japanese // Geriatrics. 1964. V. 19. P. 735−744.
28. Caul field M., Lavender P., Newell-Price J., Farrall M., Kamdar S. Linkage of the angiotensinogen gene locus to human essential hypertension in African Caribbeans // J. Clin. Invest. 1995." V. 96. P. 687−692.
29. Mondry A., Loh M., Liu P., Zhu A.L., Nagel M. Polymorphisms of the insertion/deletion ACE and M235T AGT genes and hypertension: surprising new findings and meta-analysis of data // BMC Nephrol. 2005. V. 6. P. 1−11.
30. Caulfield M., Lavender P., Farrall M., Munroe, P., Lawson M., Turner P., Clark A. Linkage of the angiotensinogen gene to essential hypertension // New Eng. J. Med. 1994. V. 330. P. 1629−1633.
31. Fardella C., Zamorana P., Mosso L., Gomes L., Pinto M., Soto J. A (-6)G variant of angiotensinogen gene and aldosterone levels in hypertensives // Hypertension. 1999. V. 34. P. 779−81.
32. Yanai К., Nibu Y., Murakami K., Fukamizu A. A cis-acting DNA located between TATA box and transcription initiation site is critical in response to regulatory sequence in human angiotensinogen gene//J. Biol. Chem. 1996. V. 271. P. 15 981−15 986.
33. Morishita R., Higaki J., Tomita N., Aoki M., Moriguchi A., Tamura K. Role of transcriptional cis-elements? Angiotensinogen gene-activating elements, of fngiotensinogen gene in blood pressure regulation // Hypertension. 1996. V. 27. P. 502−507.
34. Ward К., I lata A., Jeunemaitre X., Helin C., Nelson L., Namikawa C., Farrington P. A molecular variant of angiotensinogen associated with preeclampsia // Nature Genet. 1993. V. 4. P. 59−61.
35. Arngrimsson R., Purandare S., Connor M., Walker J., Bjornsson S., Soubrier F. Angiotensinogen: a candidate gene involved in preeclampsia? (Letter) // Nature Genet. 1993. V. 4. P. 114−115.
36. Morgan L., Baker F., Pipkin F., Kalsheker N. Pre-eclampsia and the angiotensinogen gene//Br. J. Obstet. Gynaecol. 1995. V. 102. P. 489−490.
37. Bouba I., Makrydimas G., Kalaitzidis R., Lolis D.E., Siamopoulos K.C., Georgiou I. Interaction between the polymorphisms of the renin-angiotensin system in preeclampsia // Eur. J. Obstet. Gynecol. Reprod. Biol. 2003. V. 110. P. 8−11.
38. Chesley L., Cooper D. Genetics of hypertension in pregnancy: possible single gene control of pre-eclampsia in the descendants of eclamptic women // Br. J. Obstet. Gynaecol. 1990. V. 97. P. 762−769.
39. Ikedife D. Eclampsia in multipara // BMJ. 1980. V. 1. P. 985−986.
40. Tornton J., Onwude J. Pre-eclampsia: discordance among identical twins // BMJ. 1991. V. 303. P. 1241−1242.
41. Pipkin F., Roberts J. Hypertension in pregnancy // J. Hum. Hypertens. 2000. V. 14. P. 705−724.
42. Morgan Т., Craven C., Ward K. Human spiral artery renin-angiotensin system // Hypertension. 1998. V. 32. P. 683−687.
43. Morgan J., Craven C., Nelson L., Lalouel J.M., Ward K. Angiotensinogen T235 expression is elevated in decidual spiral arteries // J. Clin. Invest. 1997. V. 100. P. 1406−1415.
44. Brenner D., Labreuche J., Poirier O., Cambien F., Amarenco P. Renin-angiotensin-aldosterone system in brain infarction and vascular death // Ann. Neurol. 2005. V. 58. P. 131−138.
45. Kiema T.R., Kauma H., Rantala A., Lilja M., Reunanen A. Variation at the angiotensin-converting enzyme gene and angiotensinogen gene loci in relation to blood pressure // Hypertension. 1996. V. 28. P. 1070−1075.
46. Guo G., Wilton A., Fu Y., Qui H., Brennecke S. Angiotensinogen gene variation in a population case-control study of preeclampsia/eclampsia in Australians and Chinese // Electrophoresis. 1997. V. 18. P. 1646−1649.
47. Риггз Б.Л., Мелтон Л. Д. Остеопороз: этиология, диагностика, лечение // М.: Невский диалект. Бином. 2000. 560 с.
48. Eisman J.A. Genetic of osteoporosis // Endocrine Rew. 1999. V. 20. P. 788−804.
49. Stewart T.L., Ralston S.H. Genetic of osteoporosis // J. Endocrinol. 2000. V. 166. P. 235−245.
50. Ilaussler M.R. Vitamin D receptors: nature and function // Annu. Rev. Nutr. 1986. V. 6. P. 527−562.
51. Morrison N.A., Qi J.C., Tokita A. Contribution of trans-acting factors alleles to normal physiological variability: vitamin D receptor gene polymorphism and circulating osteocalcin // Proc. Natl. Acad. Sci. USA. 1992. V. 89. P. 6665−6669.
52. Farrow S. Allelic variations of vitamin D receptor II Lancet. 1994. V. 343. P. 1242.
53. Gross C., Krishnan A.V., Malloy P.J., Eccleshall T.R., Zhao X.Y., Feldman D. The vitamin D receptor gene start codon polymorphism: a functional analysis of Fokl variants // J. Bone Miner. Res. 1998. V. 13. P. 1691−1699.
54. Morrison N.A., Qi J.C., Tokita A., Kelly P., Crofts L., Nguyen T.V., Sambrook P. N., Eisman J. A. Prediction of bone density from vitamin D receptor alleles // Nature. 1994. V. 367. P. 284−287.
55. Ingles S.A., Ross R.K., Yu M.C., Irvine R.A., La Pera G., Haile R.W., Coetzee G. A // J. Natl. Cancer Institute. 1997. V. 89. P. 6−10.
56. Кольман Я., Рем К. -Г. Наглядная биохимия // М: Мир. 2000. 322 с.
57. Grant S.F., Reid D.M., Blake G., Herd R., Fogelman I., Ralston S.T. Reduced bone density and osteoporosis associated with a polymorphic Spl binding site in the collagene type Ial gene // Natur. Genet. 1996. V. 14. P. 203−205.
58. Qureshi A.M., McGuigan F.E., Seymour D.G., Hutchison J.D., Reid D.M., Ralston S.H. Association between COLIA1 Spl Alleles and femoral neck geometry // Calcif. Tissue Int. 2001. V. 69. P. 67−72.
59. Weichetova M., Stepan J.J., Michalska D., Haas Т., Pols I LA., Uitterlinden A.G. COLIA1 Polymorphism contributes to bone mineral density to assess prevalent wrist fractures // Bone. 2000. V. 26. P. 287−290.
60. Liden M., Wilen В., Ljunghall S., Melhus H. Polymorphism at th Spl binding site in the COLIA1 gene does not predict bone mineral density in postmenopausal women in Swedish // Calcif. Tissue Int. 1998. V. 63. P. 293−295.
61. Sano M., Inoue S., Hosoi Т., Ouchi Y., Emi M., Shiraki M., Orimo II. Association of estrogen receptor dinucleatide polymorphism with osteoporosis // Biochem. Biophis. Res. Commun. 1995. V. 217. P. 378−383.
62. Kobayashi S., Inoue S., Hosoi Т., Shiraki M., Orimo H. Association of bone mineral density with polymorphisms of the estrogen receptor gene in post-menopausal women // J. Bone Miner. Res. 1996. V. 11. P. 306−311.
63. Sowers M., Willing M., Burns Т., Deschenes S., Hollis В., Crutchfield M., Jannausch M. Genetic markers, bone mineral density and serum osteocalcin levels // J. Bone Miner. Res. 1999. V. 14. P. 1411−1419.
64. Gennari L., Becherini L., Masi L., Gonneli S., Cepollaro C., Martini S., u
65. Montagnani A., Lentini G., Becorpi A.M., Brandi M. L. Vitamin D and estrogen receptor allelic variants, in Italian Postmenopausal women: evidence of multiple gene contribution to bone mineral density // J. Clin. Endocrin. Metab. 1998. V. 83. P. 933−944.
66. Barros E.R., Kasamatsu T.S., Ramalho A.C., Hauache O.M., Vieira J.G., Lazaretti-Castro M. Bone mineral density in young women of the city of
67. Sao Paulo, Brazil: correlation with both collagen type I alpha 1 gene polymorphism and clinical aspects // Brazilian J. Med. And Biol. Res. 2002. V. 35. P. 885−893.
68. Langdahl B.L., Gravholt C.H., Brixen K., Eriksen E.F. Polymorphisms in the vitamin D receptor gene and bone mass, bone turnover and osteoporotic fractures // Eur. J. Clin. Invest. 2000. V. 30. P. 608−617.
69. Kikuchi R., Uemura Т., Gorai I., Ohno S., Minaguchi H. Early and late postmenopausal bone loss is associated with BsmI vitamin D receptor gene polymorphism in Japanese women // Calcif. Tissue Int. 1994. V. 64. P. 102−106.
70. Sokolov B.P. Primer extension technique for the detection of single nucleotide in genomic DNA //Nucl. Acids Res. 1990. V. 18. P. 3671.
71. Sanchez J.J., Borsting C., Morling N. Typing of Y chromosome SNPs with multiplex PCR methods // Methods Mol. Biol. 2005. V. 297. P. 209−228.
72. Ben-Avi L., Durst R., Shpitzen S., Leitersdorf E., Meiner V. Apolipoprotein E genotyping: accurate, simple, high throughput method using ABI Prism SNaPshot Multiplex System // J. Alzheimers Dis. 2004. V. 6. P. 497−501.
73. Ilina E.N., Malakhova M.V., Generozov E.V., Nikilaev E.N., Govorun V.M. Matrix-assisted laser desorption ionization-time of flight (mass spectrometry) for hepatitis С virus genotyping // J. Clin. Microbiol. 2005. V. 43. P. 2810−2815.
74. Li J., Butler J.M., Tan Y., Lin H., Royer S. Single nucleotide polymorphism determination using primer extension and time-of-flight mass spectrometry // Electrophoresis. 1999. V. 20. P. 1258−1265.
75. Ross P., Hall L., Smirnov I., Ilaff L. High level multiplex genotyping by MALDI-TOF mass spectrometry // Nat. Biotech. 1998. V. 16. P. 1347−1351.
76. Xiao M., Phong A., Lum K., Greene R., Buzby P., Kwok P.-Y. Role of excess inorganic pyrophosphate in primer-extension genotyping assays // Genome Res. 2004. V. 14. P. 1749−1755.
77. Kornher J.S., Livak K.J. Mutation Detection using nucleotide analogs that alter electrophoretic mobility // Nucl. Acids Res. 1989. V. 17. P. 7779−7784.
78. Syvanen A.C., Aalto-Setala K., Ilaiju L., Kontula K., Soderlund H. A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E // Genomics. 1990. V. 8. P. 684−692.
79. Lee J.S., Anvret M. Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria // Proc. Natl. Acad. Sci. USA. 1991. V. 88. P. 10 912−10 915.
80. Ronaghi M. Pyrosequencing sheds light on DNA sequencing // Genome Res. 2001. V. 11. P. 3−11.
81. Ahmadian A., Gharizadch В., Gustafsson A.C., Sterky F., Nyren P., Uhlen M., Lundeberg J. Single nucleotide polymorphism analysis by pyrosequencing // Anal. Biochem. 2000. V. 280. P. 103−110.
82. Wilde J.T., O’Sullivan J.J., Roper J.L., Aerts P., Horowitz M., Navot N. A novel ELISA-based primer extension assay for the detection of the factor V Leiden mutation // British J. Haematology. 1999. V. 106. P. 427.
83. Andersen P. S., Jespersgaard C., Vuust J., Christiansen M., Larsen L.A. Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening // Hum. Mutat. 2003. V. 21. P. 455−465.
84. Marziali A., Akeson M. New DNA sequencing methods // Annu. Rev. Biomed. Eng.2001. V. 3. P. 195−223.
85. Kwok P.-Y. Methods genotyping single nucleotide polymorphisms // Annu. Rev. Genomics Hum. Genet. 2001. V. 2. P. 235−258.
86. Chen X., Levine L., Kwok P.-Y. Fluorescence polarization in homogeneous nucleic acid analysis // Genome Res. 1999. V. 9. P. 492−498.
87. Greene R.A., DiMeo J.J., Malone M.E., Swartwout S., Liu J., Buzby P.R. Acyclo-prime, a novel method for SNP analysis using fluorescence polarization // Proc. SPIE.2002. V. 4626. P. 332−339.
88. Lyamichev V., Brow M.A., Dahlberg J.E. Structure specific endonucleolytic cleavage of nucleic acids by eubacterial DNA polymerases // Science. 1993. V. 260. P. 778−783.
89. Heid C.A., Stevens J., Livak K.J., Williams P.M. Real time quantitative PCR // Genome Res. 1996. V. 6. P. 986−994.
90. Alves A.M., Carr F.J. Dot blot detection of point mutations with adjacently hybridizing synthetic oligonucleotide probes //Nucl. Acids Res. 1988. V. 16. P. 8723.
91. Landegren U., Kaiser R., Sanders J., Hood L. A ligase-mediated gene detection technique // Science. 1988. V. 241. P. 1077−1080.
92. Sekiguchi J., Shuman S. Nick sensing by vaccinia virus DNA ligase requires a 5' phosphate at the nick and occupancy of the adenylate binding site on the enzyme // J. Virol. 1997. V. 71. P. 9679−9684.
93. Conner B.J., Reyes A.A. Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides // Proc. Natl. Acad. Sci. USA. 1983. V. 80. P. 278−282.
94. Farr C.J., Saiki R.K., Erlich H.A., McCormick F., Marshall C.J. Analysis of ras gene mutations in acute myeloid leukemia by polymerase chain reactionand oligonucleotide probes // Proc. Natl. Acad. Sci. USA. 1988. V. 85. P. 1629−1633.
95. Saiki R.K., Walsh P. S., Levenson C.H., Erlich H.A. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes // Proc. Natl. Acad. Sci. USA. 1989. V. 86. P. 6230−6234.
96. Day I.N., O’Dell S.D., Cash I.D., Humphries S.E., Weavind G.P. Electrophoresis for genotyping: temporal thermal gradient gel electrophoresis for profiling of oligonucleotide dissociation // Nucl. Acids Res. 1995. V. 23. P. 2404−2412.
97. Dahlen P., Carlson J., Liukkonen L., Lilja H., Siitari H. Europium-labeled oligonucleotides to detect point mutations: application to PIZi-antitrypsin deficiency // Clin. Chem. 1993. V. 39. P. 1626−1631.
98. Tong D., Kucera E., Stimpfl M., Kolbl H., Leodolter S., Zeillinger R. Detection of p53 polymorphism at codon 72 by PCR and allele-specific oligonucleotide hybridization on microtiter plates // Clin. Chem. 2000. V. 46. P. 124−126.
99. Kozlowski P., Krzyzosialc W.J. Structural factors determining DNA length limitations in conformation-sensitive mutation detection methods // Electrophoresis. 2005. V. 26. P. 71−81.
100. Kleparnik K., Grochova D., Skopkova Z., Adam T. Detection of the major mutation M467T causing cystinuria by single-strand conformation polymorphism analysis using capillary electrophoresis // Electrophoresis. 2004. V. 25. P. 57−64.
101. Esteban-Cardenosa E-, Duran M., Infante M., Velasco E., Miner C. High-throughput mutation detection method to scan BRCAI and BRCA2 based on heteroduplex analysis by capillary array electrophoresis // Clin. Chem. 2004. V. 50. P. 313−320.
102. Sozen M., Whittall R., Humphries S.E. Mutation detection in patients with familial hypercholesterolemia using heteroduplex and single conformation polymorphism analysis by capillary electrophoresis // Atherosclerosis Supplements. 2004. V. 5. P. 7−11.
103. Atha D. I I., Wenz H.M., Morehead 11., Tian J., O’Connell C.D. Detection of p53 point mutations by single strand conformation polymorphism: analysis by capillary electrophoresis//Electrophoresis. 1998. V. 19. P. 172−179.
104. Goodman M.F. DNA polymerase fidelity: misinsertions and mismatched extensions. In: Innis M.A. PCR strategies // San Diego: Academic Press. 1995. P. 17−31.
105. Arguello J.R., Little A.M., Pay A.L., Gallardo D., Rojas I., Marsh S.G., Goldman J.M., Madrigal J.A. Mutation detection and typing of polymorphic loci throughdouble-strand conformation analysis // Nat. Genet. 1998. V. 18. P. 192−194.ч
106. Kozlowski P., Krzyzosiak W.J. Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection // Nucl. Acids Res. 2001. V. 29. P. e71.
107. Orita M., Suzuki Y., Sekiya Т., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorohisms using the polymerase chain reaction // Genomics. 1989. V. 5. P. 874−879.
108. Hayashi K., Wenz H.M., Inazuka M., Tahira Т., Sasaki Т., Atha D.H. SSCP analysis of point mutations by multicolor capillary electrophoresis // Methods Mol. Biol. 2001. V. 163. P. 109−126.
109. Ellis L.A., Taylor C.F., Taylor G.R. A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning // Hum. Mutat. 2000. V. 15. P. 556−564.
110. Tsang T.C., Bentley D.R., Nilsson I.M., Giannelli F. The use of DNA amplification for genetic counseling related diagnosis in haemophilia В // Thromb. Haemost. 1989. V. 61. P. 343−347.
111. Chen J., Viola M.V. A method to detect ras point mutations in small subpopulations of cells//Anal. Biochem. 1991. V. 195. P. 51−56.
112. Khan S.M., Jiang W., Culbertson T.A. Rapid and sensitive nonradioactive detection of mutant K-ras genes via «enriched» PCR amplification // Oncogene. 1991. V. 6. P. 1079−1083.
113. Zhao C., Xu G., Gao P., Yang J., Shi X., Tian J. Rapid identification of pathogenic bacteria by capillary electrophoretic analysis of rRNA genes // J. Separation Sci. 2005. V. 28. P. 513−521.
114. Ho H.-T., Chang P.-L., Hung C.-C., Chang H.-T. Capillaiy electrophoretic restriction fragment length polymorphism patterns for the Mycobacterial hsp65 gene // J. Clin. Microbiology. 2004. V. 42. P. 3525−3531.
115. Qiu P, Shandilya H, D’Alessio JM, O’Connor K, Durocher J, Gerard GF. Mutation detection using Surveyor nuclease // Biotechniques. 2004. V. 36. P. 702−707.
116. Till В., Burtner C., Comai L., Henikoff S. Mismatch cleavage by single-strand specific nucleases // Nucl. Acids Res. 2004. V. 32. P. 2632−2641.
117. Marziali A., Akeson M. New DNA sequencing methods // Annu. Rev. Biomed. Eng. 2001. V. 3. P. 195−223.
118. Newton C.R., Graham A., Heptinstall L.E. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS) // Nucl. Acids Res. 1989. V. 17. P. 2503−2516.
119. Wu D.Y., Ugozzoli L., Pal B.K., Wallace R.B. Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia // Proc. Natl. Acad. Sci. USA. 1989. V. 86. P. 2757−2760.
120. Sommer S.S., Cassady J.D., Sobel J.L., Bottema C.D. A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers ofphenylketonuria//Mayo Clin. Proc. 1989. V. 64. P. 1361−1372.
121. Rust S., Funke H., Assmann G. Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection // Nucl. Acids Res. 1993. V. 21. P. 3623−3629.
122. Okayama H., Curiel D.T., Brantly M.L., Holmes M.D. and Crystal R.G. Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification//J. Lab. Clin. Med. 1989. V. 114. P. 105−113.
123. Gibbs R.A., Nguyen P.N., Caskey C.T. Detection of single DNA base differences by competitive oligonucleotide priming // Nucl. Acids Res. 1989. V. 17. P. 2437−2448.
124. Chehab F.F., Kan Y.W. Detection of specific DNA sequences by fluorescence amplification: a color complementation assay // Proc. Natl. Acad. Sci. USA. 1989. V. 86. P. 9178−9182.
125. Kropp G.L., Fucharoen S., Embury S.H. Asymmetrically primed selective amplification/temperature shift fluorescence polymerase chain reaction to detect the hemoglobin constant spring mutation // Blood. 1991. V. 78. P. 26−29.
126. Li H., Cui X., Arnheim N. Direct electrophoretic detection of the allelic state of single DNA molecules in human sperm by using the polymerase chain reaction // Proc. Natl. Acad. Sci. USA. 1990. V. 87. P. 4580−4584.
127. Dutton C. and Sommer S.S. Simultaneous detection of multiple single-base alleles at a polymorphic site // Biotechniques. 1991. V. 11. P. 700−702.
128. Lo Y.M., Patel P., Newton C.R., Markham A.F., Fleming K.A., Wainscoat J.S. Direct haplotype determination by double ARMS: specificity, sensitivity and genetic applications //Nucl. Acids Res. 1991. V. 19. P. 3561−3567.
129. Sommer S.S., Groszbach A.R., Bottema C.D. PCR amplification of specific alleles (PASA) is a general method for rapidly detecting known single-base changes // Biotechniques. 1992. V. 12. P. 82−87.
130. Ferrie R.M., Schwarz M.J., Robertson N.H. Development, multiplexing and application of ARMS tests for common mutations in the CFTR gene // Am. J. Hum. Genet. 1992. V. 51. P. 251−262.
131. Germer S., Higuchi R. Single-tube genotyping without oligonucleotide probes // Genome Res. 1999. V. 9. P. 72−78.
132. Xiao M., Phong A., Lum K., Greene R., Buzby P., Kwok P.-Y. Role of excess inorganic pyrophosphate in primer-extension genotyping assays // Genome Res. 2004. V. 14. P. 1749−1755.
133. Decker K., Trager Т., Missel A., Heitz K., Kobsch S., Machura K., Laffert D. Optimizing probe hybridization in real-time PCR for quantification and SNP genotyping // Qiagen News. 2002. V. 4. P. 13−16.
134. Huang J., Lu J., Barany F., Cao W. Multiple cleavage activities of endonuclease V from Thermotoga maritima: recognition and strand nicking mechanism // Biochemistry. 2001. V. 40. P. 8738−8748.
135. Vaughan P., McCarthy T.V. A novel process for mutation detection using uracil DNA-glycosylase//Nucl. Acids Res. 1998. V. 26. P. 810−815.
136. Shagin D.A., Rebrikov D.V., Kozhemyako V.B., Altshuler I.M., Shcheglov A.S., Zhulidov P.A., Bogdanova E.A., Staroverov D.B., Rasskazov V.A., Lukyanov S.
137. A novel method for SNP detection using a new duplex-specific nuclease from crab hepatopancreas//Genome Res. 2002. V. 12. P. 1935−1942.
138. Патрушев Jl.И. Экспрессия генов // М.: Наука. 2000. 527 с.
139. Rust S., Funke Н., Assmann G. Mutagenically separated PCR (MS-PCR): a highlyispecific one step procedure for easy mutation detection // Nucl. Acids Res. 1993. V.21.P. 3623−3629.
140. Locht L. Т., Kuypers A.W., Verbruggen B.W., Linssen P.C., Novakova I. R., Mensink E. J. Semi-automated detection of the factor V mutation by allele specific amplification and capillary electrophoresis // Thromb. Haemost. 1995. V. 74. P. 1276−1279.
141. Mitterer M., Lanthaler A.J., Mair W., Giacomuzzi K., Coser P. Simultaneous detection of FV Q506 and prothrombin 2021 OA variation by allele-specific PCR // Haematologica. 1999. V. 84. P. 204−207.
142. Hezard N., Cornillet-Lefebvre P., Gillot L., Potron P., Nguyen P. Multiplex ASA PCR for a simultaneous determination of factor V Leiden gene, G→A 20 210 Prothrombin gene and C→T 677 MTIIFR gene mutations // Thromb. Haemost. 1998. V. 79. P. 1054−1055.
143. Niimi Т., Tomita ll., Sato S., Kawaguchi H., Akita K., Maeda H., SugiuraY., Ueda R. Vitamin D receptor gene polymorphism in patients with sarcoidosis // Am. J. Respir. Crit. Care. Med. 1999. V. 160. P. 1107−1109.
144. Jaramillo-Rangel G., Cerda-Flores R.M., Cardenas-Ibarra L., Tamayo-Orozco J., Morrison N., Barrera-Saldana H.A. Vitamin D receptor polymorphisms and mineral density in Mexican women without osteoporosis // Am. J. Hum. Biol. 1999. V. 11. P. 793−797.
145. Sambrook J., Fritsch E.F. Maniatis T. Molecular Cloning: A Laboratoiy Manual // Cold Spring Harbor, New York: Cold Spring I larbor Laboratoiy Press. 1989.