Application of the human genome to obstetrics and gynecology

Clinical Obstetrics and Gynecology

Volumn 45, Issue 3, 2002, Pages 711-729

  Woodage, Trevor ^a   Venter, J Craig ^a   Broder, Samuel ^a  

^a CELERA GENOMICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CYTOCHROME P450 1A1; GENE PRODUCT; GLUTATHIONE TRANSFERASE M1; MISMATCH REPAIR PROTEIN PMS2; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN EMX2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN NAT2; PROTEIN PMS1; PROTEIN PREG1; PROTEOME; UNCLASSIFIED DRUG;

COMPARATIVE GENOMIC HYBRIDIZATION; ENDOMETRIOSIS; ENDOMETRIUM CANCER; FERTILITY; FETUS DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GYNECOLOGIC DISEASE; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; LINKAGE ANALYSIS; MEDICAL RESEARCH; MENOPAUSE; OVARY CANCER; OVULATION; PATHOPHYSIOLOGY; PREECLAMPSIA; REVIEW; SEQUENCE ANALYSIS; TWIN PREGNANCY;

ABNORMALITIES; ANIMALS; BREAST NEOPLASMS; COMPUTATIONAL BIOLOGY; ENDOMETRIAL NEOPLASMS; ENDOMETRIOSIS; FEMALE; GENETICS, MEDICAL; GENOME, HUMAN; GENOMICS; GYNECOLOGY; HIV INFECTIONS; HUMANS; MENARCHE; MENOPAUSE; OBSTETRICS; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; PRE-ECLAMPSIA; PREGNANCY; PREGNANCY COMPLICATIONS, INFECTIOUS; PROTEOMICS; TWINS;

EID: 0036405347     PISSN: 00099201     EISSN: None     Source Type: Journal    
DOI: 10.1097/00003081-200209000-00014     Document Type: Review

References (86)

1. Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science. 2001;291:1304-1351.
2. Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409:860-921.
3. Subramanian G, Adams MD, Venter JC, et al. Implications of the human genome for understanding human biology and medicine. JAMA. 2001;286:2296-2307.
4. Maxam AM, Gilbert W. A new method for sequencing DNA. Proc Natl Acad Sci USA. 1977;74:560-564.
5. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA. 1977;74:5463-5467.
6. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature. 1981;290:457-465.
7. Fleischmann RD, Adams MD, White O, et al. Whole-genome random sequencing and assembly of Haemophilus influenzae Rd. Science. 1995;269:496-512.
8. Adams MD, Celniker SE, Holt RA, et al. The genome sequence of Drosophila melanogaster. Science. 2000;287:2185-2195.
9. The C. elegans Sequencing Consortium. Genome sequence of the nematode C. elegans: A platform for investigating biology. Science. 1998;282:2012-2018.
10. The Arabidopsis Genome Initiative. Analysis of the genome sequence of the flowering plant Arabidopsis thaliana. Nature. 2000;408:796-815.
11. Schwarz K, Gauss GH, Ludwig L, et al. RAG mutations in human B cell-negative SCID. Science. 1996;274:97-99.
12. Agrawal A, Eastman QM, Schatz DG. Transposition mediated by RAG1 and RAG2 and its implications for the evolution of the immune system. Nature. 1998;394:744-751.
13. Goodman M. The genomic record of humankind's evolutionary roots. Am J Hum Genet. 1999;64:31-39.
14. Patterson SD. Proteomics: The industrialization of protein chemistry. Curr Opin Biotechnol. 2000;11:413-418.
15. Cravchik A, Subramanian G, Broder S, et al. Sequence analysis of the human genome: Implications for the understanding of nervous system function and disease. Arch Neurol. 2001;58:1772-1778.
16. Papadopoulos N, Nicolaides NC, Wei YF, et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994;263:1625-1629.
17. Collins FS. Positional cloning moves from perditional to traditional. Nat Genet. 1995;9:347-350.
18. Smith JD. Apolipoprotein E4: An allele associated with many diseases. Ann Med. 2000;32:118-127.
19. Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 2001;411:603-606.
20. Chesley LC, Annitto JE, Cosgrove RA. The familial factor in toxemia of pregnancy. Obstet Gynecol. 1968;32:303-311.
21. Cincotta RB, Brennecke SP. Family history of pre-eclampsia as a predictor for pre-eclampsia in primigravidas. Int J Gynaecol Obstet. 1998;60:23-27.
22. Dekker GA, Sibai BM. Etiology and pathogenesis of preeclampsia: Current concepts. Am J Obstet Gynecol. 1998;179:1359-1375.
23. Roberts JM, Cooper DW. Pathogenesis and genetics of pre-eclampsia. Lancet. 2001;357:53-56.
24. Esplin MS, Fausett MB, Fraser A, et al. Paternal and maternal components of the pre-disposition to preeclampsia. N Engl J Med. 2001;344:867-872.
25. Arngrimsson R, Geirsson RT, Cooke A, et al. Renin gene restriction fragment length polymorphisms do not show linkage with preeclampsia and eclampsia. Acta Obstet Gynecol Scand. 1994;73:10-13.
26. Moses EK, Lade JA, Guo G, et al. A genome scan in families from Australia and New Zealand confirms the presence of a maternal susceptibility locus for pre-eclampsia, on chromosome 2. Am J Hum Genet. 2000;67:1581-1585.
27. Wilton AN, Cooper DW, Brennecke SP, et al. Absence of close linkage between maternal genes for susceptibility to pre-eclampsia/eclampsia and HLA DR beta. Lancet. 1990;336:653-657.
28. Chikosi AB, Moodley J, Pegoraro RJ, et al. 5,10-Methylenetetrahydrofolate reductase polymorphism in black South African women with pre-eclampsia. Br J Obstet Gynaecol. 1999;106:1219-1220.
29. Chikosi AB, Moodley J, Pegoraro RJ. Apolipoprotein E polymorphism in pre-eclampsia. S Afr Med J. 2000;90:128-129.
30. Hubel CA, Roberts JM, Ferrell RE. Association of pre-eclampsia with common coding sequence variations in the lipoprotein lipase gene. Clin Genet. 1999;56:289-296.
31. Lade JA, Moses EK, Guo G, et al. The eNOS gene: A candidate for the preeclampsia susceptibility locus? Hypertens Pregnancy. 1999;18:81-93.
32. Lockwood CJ. Heritable coagulopathies in pregnancy. Obstet Gynecol Surv. 1999;54:754-765.
33. Kahn SR. Severe preeclampsia associated with coinheritance of factor V Leiden mutation and protein S deficiency. Obstet Gynecol. 1998;91:812-814.
34. Kim YJ, Williamson RA, Murray JC, et al. Genetic susceptibility to preeclampsia: Roles of cytosineto-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine beta-synthase, and factor V Leiden mutation. Am J Obstet Gynecol. 2001;184:1211-1217.
35. Livingston JC, Barton JR, Park V, et al. Maternal and fetal inherited thrombophilias are not related to the development of severe pre-eclampsia. Am J Obstet Gynecol. 2001;185:153-157.
36. Ozcan T, Rinder HM, Murphy J, et al. Genetic thrombophilia and hypertensive complications of pregnancy. Obstet Gynecol. 2001;97:S40.
37. Kupfermine MJ, Eldor A, Steinman N, et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med. 1999;340:9-13.
38. Fisher KA, Luger A, Spargo BH, et al. Hypertension in pregnancy: Clinical-pathological correlations and remote prognosis. Medicine (Baltimore). 1981;60:267-276.
39. Lewis CM, Healey SC, Martin NG. Genetic contribution to DZ twinning. Am J Med Genet. 1996;61:237-246.
40. Mulsant P, Lecerf F, Fabre S, et al. Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Booroola Merino ewes. Proc Natl Acad Sci USA. 2001;98:5104-5109.
41. Duffy DL, Montgomery GW, et al. Human twinning is not linked to the region of chromosome 4 syntenic with the sheep twinning gene FecB. Am J Med Genet. 2001;100:182-186.
42. Montgomery GW, Duffy DL, Hall J, et al. Dizygotic twinning is not linked to variation at the alpha-inhibin locus on human chromosome 2. J Clin Endocrinol Metab. 2000;85:3391-3395.
43. Busjahn A, Knoblauch H, Faulhaber HD, et al. A region on chromosome 3 is linked to dizygotic twinning. Nat Genet. 2000;26:398-399.
44. Duffy D, Montgomery G, Treloar S, et al. IBD sharing around the PPARG locus is not increased in dizygotic twins or their mothers. Nat Genet. 2001;28:315.
45. Rossi E, Piccini F, Zollino M, et al. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet. 2001;38:417-420.
46. Joly G, Lapierre JM, Ozilou C, et al. Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype. Clin Genet. 2001;60:212-219.
47. Boudjemline Y, Fermont L, Le Bidois J, et al. Prevalence of 22qll deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study. J Pediatr. 2001;138:520-524.
48. Eldadah ZA, Hamosh A, Biery NJ, et al. Familial tetralogy of Fallot caused by mutation in the jagged1 gene. Hum Mol Genet. 2001;10:163-169.
49. Kathiriya IS, Srivastava D. Left-right asymmetry and cardiac looping: Implications for cardiac development and congenital heart disease. Am J Med Genet. 2000;97:271-279.
50. Fernandez AD, McNeeley DF. Management of the infant born to a mother infected with human immunodeficiency virus type 1 (HIV-1): Current concepts. Am J Perinatol. 2000;17:429-436.
51. Weinstein MC, Goldie SJ, Losina E, et al. Use of genotypic resistance testing to guide HIV therapy: Clinical impact and cost-effectiveness. Ann Intern Med. 2001;134:440-450.
52. Murray MC, Embree JE, Ramdahin SG, et al. Effect of human immunodeficiency virus (HIV) type 1 viral genotype on mother-to-child transmission of HIV-1. J Infect Dis. 2000;181:746-749.
53. Carrington M, Nelson GW, Martin MP, et al. HLA and HIV-1: Heterozygote advantage and B*35-Cw*04 disadvantage. Science. 1999;283:1748-1752.
54. O'Brien SJ, Moore JP. The effect of genetic variation in chemokines and their receptors on HIV transmission and progression to AIDS. Immunol Rev. 2000;177:99-111.
55. Treloar SA, O'Connor DT, O'Connor VM, et al. Genetic influences on endometriosis in an Australian twin sample. Fertil Steril. 1999;71:701-710.
56. Kennedy S. Is there a genetic basis to endometriosis? Semin Reprod Endocrinol. 1997;15:309-318.
57. Gogusev J, Bouquet dJ, Telvi L et al. Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization. Hum Genet. 1999;105:444-451.
58. Thomas EJ, Campbell IG. Molecular genetic defects in endometriosis. Gynecol Obstet Invest. 2000;50(Suppl 1):44-50.
59. Scialli AR. Tampons, dioxins, and endometriosis. Reprod Toxicol. 2001;15:231-238.
60. Arvanitis DA, Goumenou AG, Matalliotakis IM, et al. Low-penetrance genes are associated with increased susceptibility to endometriosis. Fertil Steril. 2001;76:1202-1206.
61. Nakago S, Hadfield RM, Zondervan KT, et al. Association between endometriosis and N-acetyl transferase 2 polymorphisms in a UK population. Mol Hum Reprod. 2001;7:1079-1083.
62. Kennedy S, Bennett S, Weeks DE. Affected sib-pair analysis in endometriosis. Hum Reprod Update. 2001;7:411-418.
63. Lynch HT, Smyrk T, Lynch JF. Molecular genetics and clinical-pathology features of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome): Historical journey from pedigree anecdote to molecular genetic confirmation. Oncology. 1998;55:103-108.
64. Esteller M, Xercavins J, Reventos J. Advances in the molecular genetics of endometrial cancer (review). Oncol Rep. 1999;6:1377-1382.
65. Peiffer-Schneider S, Noonan FC, Mutch DG, et al. Mapping an endometrial cancer tumor suppressor gene at 10q25 and development of a bacterial clone contig for the consensus deletion interval. Genomics. 1998;52:9-16.
66. Noonan FC, Mutch DG, Ann MM, et al. Characterization of the homeodomain gene emx2: Sequence conservation, expression analysis, and a search for mutations in endometrial cancers. Genomics. 2001;76:37-44.
67. Brunelli S, Faiella A, Capra V, et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet. 1996;12:94-96.
68. Brody LC, Biesecker BB. Breast cancer susceptibility genes. BRCA1 and BRCA2. Medicine (Baltimore). 1998;77:208-226.
69. King MC, Wieand S, Hale K, et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA. 2001;286:2251-2256.
70. Szabo CI, King MC. Population genetics of BRCA1 and BRCA2. Am J Hum Genet. 1997;60:1013-1020.
71. Nathanson KL, Weber BL. "Other" breast cancer susceptibility genes: Searching for more Holy Grail. Hum Mol Genet. 2001;10:715-720.
72. Stratton JF, Thompson D, Bobrow L, et al. The genetic epidemiology of early-onset epithelial ovarian cancer: A population-based study. Am J Hum Genet. 1999;65:1725-1732.
73. van Noord PA, Dubas JS, Dorland M, et al. Age at natural menopause in a population-based screening cohort: The role of menarche, fecundity, and lifestyle factors. Fertil Steril. 1997;68:95-102.
74. de Bruin JP, Bovenhuis H, van Noord PA, et al. The role of genetic factors in age at natural menopause. Hum Reprod. 2001;16:2014-2018.
75. Cramer DW, Xu H, Harlow BL. Family history as a predictor of early menopause. Fertil Steril. 1995;64:740-745.
76. Treloar SA, Martin NG. Age at menarche as a fitness trait: Nonadditive genetic variance detected in a large twin sample. Am J Hum Genet. 1990;47:137-148.
77. Gimelfarb A, Bottini E. Age differences between distributions of genotypes among pregnant women: Evidence of fertility selection. Genet Res. 1989;53:207-214.
78. Rodgers JL, Kohler HP, Kyvik KO, et al. Behavior genetic modeling of human fertility: Findings from a contemporary Danish twin study. Demography. 2001;38:29-42.
79. Bottini N, Gimelfarb A, Gloria-Bottini F, et al. Haptoglobin genotype and natural fertility in humans. Fertil Steril. 1999;72:293-296.
80. American College of Obstetricians and Gynecologists, American College of Medical Genetics. Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. Washington DC: American College of Obstetricians and Gynecologists, 2001.
81. Wilton L, Williamson R, McBain J, et al. Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med. 2001;345:1537-1541.
82. Evans WE, Relling MV. Pharmacogenomics: Translating functional genomics into rational therapeutics. Science. 1999;286:487-491.
83. Drysdale CM, McGraw DW, Stack CB et al. Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci USA. 2000;97:10483-10488.
84. Vesell ES. Advances in pharmacogenetics and pharmacogenomics. J Clin Pharmacol. 2000;40:930-938.
85. Drews J. Drug discovery: A historical perspective. Science. 2000;287:1960-1964.
86. Core Competency Working Group of the National Coalition for Health Professional Education in Genetics. Recommendations of core competencies in genetics essential for all health professionals. Genet Med. 2001;3:155-159.