산전유전진단 및 유전상담의 실제 = Prenatal genetic diagnosis and counselling: principles and clinical applications

국문 초록 (Abstract)

최근 유전학이 급속도로 발전함에 따라 다양한 유전자의 기능과 질환과의 관련성이 밝혀지고 있다 따라서 이러한 유전적 질환을 가진 환자에 대한 산전유전진단 및 유전상담에 대한 요구도 증가하고 있으며 이러한 부분이 산전 진찰에 있어서 중요한 일부분을 차지하게 되었다. 저자들은 산전유전진단의 원칙과 실제 유전자 검사를 통해 산전 진단한 증례들을 통하여, 산전 진단 시 고려해야 할 사항들에 대해 알아보고자 한다.

다국어 초록 (Multilingual Abstract)

The rapid development of molecular genetic test makes it possible to screen and to diagnosis thousands of genetic diseases. Accordingly, the needs for prenatal genetic diagnosis for non-chromosomal genetic diseases are increasing. Prenatal genetic diagnosis and appropriate counselling is an important part of the overall scheme of prenatal care. Therefore, we are going to review the general principles of prenatal diagnosis and its clinical applications with several practical cases.

참고문헌 (Reference)

1 Verrijn Stuart AA, "″Shake hands″; diagnosing a floppy infant--myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis" 28 : 497-501, 2000

2 Northrup H, "uberous Sclerosis Complex. In: GeneTests: Medical Genetics Information Resource (database online)" 1999

3 Towbin JA, "X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus" circulation19931854-65

4 "What is Genetic Testing?In: GeneTests: Medical Genetics Information Resource (database online)" 2005

5 Halliday DJ, "Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice" 39 : 589-593, 2002

6 Bushby KM, "The limb-girdle muscular dystrophies-multiple genes,multiple mechanisms" 8 : 1875-1882, 1999

7 Nigro G, "The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy" 26 : 271-7, 1990

8 van Essen AJ, "The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy:an updated protocol" 34 : 805-812, 1997

9 Loeys B, "Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome(MFS)" 22 : 22-28, 2002

10 Wirth B, "Spinal muscular atrophy:from gene to therapy" 13 : 121-131, 2006

11 Prior TW, "Spinal muscular atrophy" 2006

12 Pesso R, "Screening for fragile X syndrome in women of reproductive age" 20 : 611-614, 2000

13 De Paepe A, "Revised diagnosticcriteria for the Marfan syndrome" 62 : 417-426, 1996

14 Magee AC, "Reproductive counselling for women with myotonic dystrophy" 39 : E15-, 2002

15 Redman JB, "Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring" jama19931960-5

16 Feldkotter M, "Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR:fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy" 70 : 358-368, 2002

17 Bui TH, "Prenatal diagnosis: molecular genetics and cytogenetics" 16 : 629-643, 2002

18 Milunsky JM, "Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis:efficacy and potential pitfalls" 3 : 255-258, 1999

19 Rantamaki T, "Prenatal diagnosis of Marfan syndrome:identification of a fibrillin-1 mutation in chorionic villus sample" 15 : 1176-1181, 1995

20 Martorell L, "Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families" 27 : 68-72, 2007

21 Godfrey M, "Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome" 53 : 472-80, 1993

22 Harton GL, "Preimplantation genetic testing for Marfan syndrome" 2 : 713-715, 1996

23 Sermon K, "Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer" 71 : 163-166, 1999

24 Spits C, "Preimplantation genetic diagnosis for Marfan syndrome" 86 : 310-320, 2006

25 Sunyaev S, "Prediction of deleterious human alleles" 10 : 591-597, 2001

26 Ng PC, "Predicting deleterious amino acid substitutions" 11 : 863-874, 2001

27 Emery AE, "Population frequencies of inherited neuromuscular diseases--a world survey" 1 : 19-29, 1991

28 Beghetti M, "Pediatric primary benign cardiac tumors: a 15-year review" 134 : 1107-1114, 1997

29 "Online Mendelian Inheritance in Men"

30 Bird TD, "Myotonic dystrophy type1. In: GeneTests: Medical Genetics Information Resource (database online)" 2005

31 Sancak O, "Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting:genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex" 13 : 731-741, 2005

32 Dabora SL, "Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2,compared with TSC1,disease in multiple organs" 68 : 64-80, 2001

33 Strom CM, "Mutation detection, interpretation, and applications in the clinical laboratory setting" 573 : 160-167, 2005

34 Tantravahi U, "Molecular genetic testing for prenatal diagnosis" 23 : 481-502, 2003

35 Chen CP, "Molecular genetic analysis of the TSC genes in two families with prenatally diagnosed rhabdomyomas" 25 : 176-178, 2005

36 Brook JD, "Molecular basis of myotonic dystrophy:expansion of a trinucleotide(CTG)repeat at the 3′ end of a transcript encoding a protein kinase family member" 68 : 799-808, 1992

37 Mailman MD, "Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2" 4 : 20-26, 2002

38 Hahnen E, "Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)" 6 : 821-825, 1997

39 Talbot K, "Missense mutation clustering in the survival motor neuron gene:a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism" 6 : 497-500, 1997

40 Stojilkovic-Mikic T, "Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping" 25 : 79-83, 2005

41 Judge DP, "Marfan′s syndrome" 366 : 1965-1976, 2005

42 Dietz HC, "Marfan syndrome caused by a recurrent de novo missense muta-tion in the fibrillin gene" 352 : 337-339, 1991

43 Silverman DI, "Life expectancy in the Marfan syndrome" 75 : 157-160, 1995

44 Parsons DW, "Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number" 63 : 1712-1723, 1998

45 Pearn J, "Incidence,prevalence,and gene frequency studies of chronic childhood spinal muscular atrophy" 15 : 409-13, 1978

46 McAndrew PE, "Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number" 60 : 1411-1422, 1997

47 Gatta V, "Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification(MLPA)" 117 : 92-98, 2005

48 Lefebvre S, "Identification and characterization of a spinal muscular atrophy- determining gene" 80 : 155-165, 1995

49 Kristensen VN, "High-throughput methods for detection of genetic variation" 30 : 318-326, 2001

50 Ogino S, "Genetic testing and risk assessment for spinal muscular atrophy(SMA)" 111 : 477-500, 2002

51 Koch MC, "Genetic risks for children of women with myotonic dystrophy" 48 : 1084-91, 1991

52 McConkie-Rosell A, "Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors" 14 : 249-270, 2005

53 Nolin SL, "Familial transmission of the FMR1 CGG repeat" 59 : 1252-1261, 1996

54 Verellen-Dumoulin C, "Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome" 67 : 115-9, 1984

55 Fryer AE, "Evidence that the gene for tuberous sclerosis is on chromosome 9" 1 : 659-61, 1987

56 Osborne JP, "Epidemiology of tuberous sclerosis" 615 : 125-7, 1991

57 Thieme A, "Epidemiological data on Werdnig-Hoffmann disease in Germany(West-Thuringen)" 91 : 295-7, 1993

58 Roach ES, "Diagnosis of tuberous sclerosis complex" 19 : 643-649, 2004

59 Musci TJ, "Cost-effectiveness analysis of prenatal population-based fragile X carrier screening" 192 : 1905-1912, 2005

60 Cobo AM, "Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy" 32 : 105-108, 1995

61 Hageman AT, "Congenital myotonic dystrophy;a report on thirteen cases and a review of the literature" 115 : 95-101, 1993

62 Upadhyay K, "Congenital myotonic dystrophy" 20 : 512-514, 2005

63 Davies J, "Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations" 29 : 766-9, 1992

64 Aslanidis C, "Cloning of the essential myotonic dystrophy region and mapping of the putative defect" 355 : 548-51, 1992

65 Moizard MP, "Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?" 80 : 32-41, 1998

66 Cohn RD, "Angiotensin II type 1 receptor blockade attenuates TGF-beta- induced failure of muscle regeneration in multiple myopathic states" 13 : 204-210, 2007

67 Pembrey ME, "An assessment of screening strategies for fragile X syndrome in the UK" 5 : 1-95, 2001

68 Parsons DW, "An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene" 5 : 1727-1732, 1996

69 Galvagni F, "A study on duplications of the dystrophin gene:evidence of a geographical difference in the distribution of breakpoints by intron" 94 : 83-7, 1994

70 Diagnosis of Duchenne, "A multicenter study" 267 : 2609-15, 1992

71 Bussaglia E, "A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients" 11 : 335-337, 1995