한국인 선천성 이상 질환이 의심되는 14,402 환자에 대한 세포유전학적 연구: YUMC의 31년 경험 (1974-2004년간)
Cytogenetic study in 14,402 patients referred for suspected congenital disorders in Korea: YUMC 31 years experience from 1974 to 2004 years
2
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
목적: 한국인의 선천성 이상질환에 대한 종류별 세포유전학적 검사를 시행하여, 질환별 염색체이상 종류 및 빈도 등을 체계적으로 분석하여 한국인의 세포유전학적 연구 및 진단에 지표를 세우고자 한다. 연구 방법: 세포유전학검사는 본원 유전학검사실에서 1974년 1월 1일부터 2004년 12월 31일까지 (31년간) 선천성 이상질환이 의심되는 14,402명의 환자를 대상으로 시행하였고, 형광동소교잡법 (FISH) 검사는 보조적으로 1998년 1월 1일부터 2004년 12월 31일까지 272예를 대상으로 시행하였다. 결과: 세포유전학 검사의 년도별 빈도는 1974년 시작시 33예이었고, 1983년 481예로 급격히 증가하였으며, 1993년 894예로 가장 높은 빈도를 보였고, 이후 1996년을 기점으로 714예로 감소하였다. 전체 염색체 이상은 2,100예로 14.58% 이었다. 상염색체 이상은 1257예 (8.73%) 이었으며 이중 다운증후군이 848예 (5.89%), 에드워드 증후군이 38예 (0.26%), 파타우 증후군이 6예 (0.04%)의 순이었고, 성염색체 이상은 843예 (5.85%)로 이중 터너증후군이 527예 (3.66%), 클라인펠터 증후군이 267예 (1.85%) 이었다. 반복자연유산 535쌍의 부부 중 32예 (5.98%), 원발성 무월경 환자 1,068예 중 683예 (63.95%)에서 염색체 이상 소견을 보였다. 형광동소교잡법에 의한 표적염색체 및 미세결실증후군의 진단은 각각 20.59%, 22.71% 이었다. 결론: 단일 기관에서 31년간 시행한 14,402예의 세포유전학적 검사를 통하여, 선천성 이상질환의 종류와 염색체 이상의 종류 및 그 빈도를 체계적으로 연구한 것으로써 한국인 선천성 질환의 연구 및 치료에 지표가 될 것으로 사료되며, 또한 세포유전자 검사와 더불어 보조적인 FISH검사가 필요하다.
Abstract
Objective: To make a guideline for cytogenetic study and diagnosis through systematic analysis of types and the incidences of chromosomal abnormalities obtained from various types of congenital disorder in Korea. Methods: The cytogenetic study was performed on 14,402 patients with suspected chromosomal abnormalities at our genetic laboratory of the medical research center between January 1, 1974 to December 31, 2004 and additionally the FISH (Fluorescence in situ hybridization) study was done on 272 patients between January 1, 1998 to December 31, 2004. Results: Total number of case requiring cytogenetic study were 33 in starting year (1974) and by 1983, the number increased rapidly to 481 cases. The number of case was maximum of 894 cases in 1993 and it started to decline from 1996 to 714. Overall chromosomal aberrations were 2,100 cases (14.58%). Autosomal chromosomal abnormalities were 1,257 cases (8.73%). Among those cases, Down syndrome was 848 cases (5.89%), Edward syndrome was 38 cases (0.26%), and Patau syndrome was 6 cases (0.04%) in order of frequency. Sex chromosomal abnormalities were 843 cases (5.85%) in total. Among those cases, Turner syndrome was 527 cases (3.66%), Kleinfelter syndrome was 267 cases (1.85%). Chromosomal abnormality rate in 535 couples with recurrent spontaneous abortions was 5.98% (32 couples). And chromosomal aberration in 1068 cases with primary amenorrhea was 63.95% (683 cases). The diagnostic rate of microdeletion syndrome by FISH method was 22.71%, and marker chromosome was 20.56%. Conclusion: From cytogenetic analysis of 14,402 cases performed in single institute during 31 years, we performed a study on the types and the incidences of chromosomal abnormalities. We hope we could suggest a guideline for studies and treatments of congenital disorders in Korea. Along with the cytogenetic study, FISH study was also required.
참고문헌 (38)
- Tjio JH, "The chromosome number in man", 42, pp.1~6 (1956)
- Ford CE, "A sex chromosome anomaly in a case of gonadal dysgenesis", 711, pp.1~5 (1959)
- Moorhead PS, "Chromosome preparations of leukocytes cultured from human peripheral blood", 613, pp.20~4 (1960)
- Casperson T, "Analysis of human metaphase chromosomic set by aid of DNA-binding fluorescent agents", 62, pp.490~2 (1970)
- Ledbetter DH, "Deletions of chromosome 15 as a cause of the Prader- Willi syndrome", 304, pp.325~9 (1981)
- Smith A, "Comparison of high resolution Cytogenetic fluorescence in situ hybridization and DNA studies to validate the diagnosis of Prader- Willi and Angelman's syndromes", 72, pp.397~402 (1995)
- Kim JK, "Cytogenetic studies in patients with suspected congenital disorders in Korea", 25, pp.45~55 (1982)
- Yang YH, "Chromosomal abnormalities in the field of obstetrics and gynecology", 26, pp.1279~90 (1983)
- Kim SS, "Chromosome abnormalities in a referred population for suspected chromosomal aberrations:A report of 4117 cases", 14, pp.373~6 (1999)
- Mutton D, "Cytogenetic and epidemiological findings in Down syndrome England and Wales 1989 to 1993 National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists", 33, pp.387~94 (1996)
- Stoll C, "Epidemiology of Down syndrome in 238", 41, pp.44~51 (1998)
- Mokhtar MM,, "Cytogenetic profile of Down syndrome in Alexandria, Egypt", 9, pp.37~44 (2003)
- Yamada K, "Population studies of inv chromosome in 4", 37, pp.293~301
- Serra A, "Pericentric inversion of chromosome 9:prevalence in 300 Down syndrome families and molecular studies of nondisjunction", 7, pp.162~8 (1990)
- Huether CA, "Sex ratios in fetuses and liveborn infants with autosomal aneuploidy", 63, pp.492~500 (1996)
- Griffin DK, "Sex ratio in normal and disomic sperm:evidence that the extra chromosome 21 preferentially segregates with the Y chromosome", 59, pp.1108~13 (1996)
- Gravholt CH, "Prenatal and postnatal prevalence of Turner's syndrome:a registry study", 312, pp.16~21 (1996)
- Hamerton JL, "A Cytogenetic survey of 14 Incidence of chromosomal abnormalities", pp.223~6
- Penrose LS, "Triploid cell cultures form macerated foetus", 1, pp.1261~9 (1961)
- Schmid W, "A familial chromosome abnormality associated with repeated abortions", 1, pp.109~18 (1962)
- Papp Z, "Chromosome studies of couples with repeated spontaneous abortions", 25, pp.713~9 (1974)
- Yang YH, "Cytogenetic study of recurrent spontaneous abortion", 33, pp.512~20 (1990)
- Makino S, "Chromosomal analysis in Japanese couples with repeated spontaneous abortions", 35, pp.266~70 (1990)
- Fryns JP, "Structural chromosome rearrangements in couples with recurrent fetal wastage", 81, pp.171~6 (1998)
- Jacobs PA, "Ctogenetic studies in primary amenorrhea", 1, pp.1183~8 (1961)
- Opitz O, "Cytogenetic investigation of 103 patients with primary or secondary amenorrhea", 65, pp.46~50 (1983)
- Yang YH, "Cytogenetic studies in 236 patients with primary amenorrhea", 13, pp.153~9 (1986)
- Park YS, "Cytogenetic study of primary amenorrhea", 42, pp.814~20 (1999)
- Yang YH, "Cytogenetic studies in 236 patients with primary amenorrhea", 13, pp.153~9 (1986)
- Prader A, "Ein Syndrome von Adipositas und Oligophrenie nach Myotonieartigem Zustand im neugeborenalter", pp.1260~1
- Butler MG, "Parental origin of chromosome 15 deletion in Prader-Willi syndrome", pp.1285~6
- Cassidy SB, "Disorders of genomic imprinting", 77, pp.140~51 (1998)
- Bettio D, "FISH analysis in Prader-Willi and Angelman syndrome patients", 56, pp.224~8 (1995)
- Yang YH, "The usefulness of fluorescence in situ hybridiation in the diagnosis of Prader- Willi syndrome", 43, pp.360~4 (2000)
- Shin JS, "Hidden Y chromosome and marker chromosome identification by FISH Fluorescence in situ hybridization", 47, pp.829~33 (2004)
- Yang YH, "Clinical usefulness of fluorescence in situ hybridization in the diagnosis of genetic disease", 45, pp.1016~25 (2002)
- Medlej R, "Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome", 75, pp.1289~92 (1992)
- Tsuchiya K, "Gonadoblastoma:molecular definition of the susceptibility region of the Y chromosome", 57, pp.1400~7 (1995)