HEREDITARY UNSTABLE DNA - A NEW EXPLANATION FOR SOME OLD GENETIC QUESTIONS

被引：71

作者：

SUTHERLAND, GR ^{[1
]}

HAAN, EA ^{[1
]}

KREMER, E ^{[1
]}

LYNCH, M ^{[1
]}

PRITCHARD, M ^{[1
]}

YU, S ^{[1
]}

RICHARDS, RI ^{[1
]}

机构：

[1] ADELAIDE CHILDRENS HOSP INC,DEPT MED GENET,ADELAIDE,SA 5006,AUSTRALIA

来源：

LANCET | 1991年 / 338卷 / 8762期

关键词：

D O I：

10.1016/0140-6736(91)90426-P

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Fragile X syndrome, associated with the fragile X chromosome, is the most common cause of familial mental retardation. The condition is characterised by a heritable DNA sequence that consists of an abnormal number of CCG repeats, and which is unstable in both mitosis and meiosis. We suggest that such heritable unstable DNA sequences could be present in other parts of the genome and that these might explain a number of genetic events that are not well understood in terms of classic genetic mechanisms. Such poorly explained observations include anticipation, incomplete penetrance, variable expression, and possibly imprinting, variegation, and multifactorial inheritance.

引用

页码：289 / 292

页数：4

共 18 条

[1] A NEW FOLATE SENSITIVE FRAGILE SITE AT 1P21.3 [J].

BAKER, E ;

SUTHERLAND, GR .

JOURNAL OF MEDICAL GENETICS, 1991, 28 (05) :356-357

[2] AGE AT CLINICAL ONSET AND AT ULTRASONOGRAPHIC DETECTION OF ADULT POLYCYSTIC KIDNEY-DISEASE - DATA FOR GENETIC-COUNSELING [J].

BEAR, JC ;

MCMANAMON, P ;

MORGAN, J ;

PAYNE, RH ;

LEWIS, H ;

GAULT, MH ;

CHURCHILL, DN .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 18 (01) :45-53

[3] PHYSICAL MAPPING ACROSS THE FRAGILE-X - HYPERMETHYLATION AND CLINICAL EXPRESSION OF THE FRAGILE-X SYNDROME [J].

BELL, MV ;

HIRST, MC ;

NAKAHORI, Y ;

MACKINNON, RN ;

ROCHE, A ;

FLINT, TJ ;

JACOBS, PA ;

TOMMERUP, N ;

TRANEBJAERG, L ;

FROSTERISKENIUS, U ;

KERR, B ;

TURNER, G ;

LINDENBAUM, RH ;

WINTER, R ;

PEMBREY, M ;

THIBODEAU, S ;

DAVIES, KE .

CELL, 1991, 64 (04) :861-866

[4]

HAGEMAN MJ, 1977, AM J HUM GENET, V29, P468

[5] GENOMIC IMPRINTING [J].

HALL, JG .

ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 1990, 65 (10) :1013-1015

[6]

HARPER PS, 1972, LANCET, V2, P53

[7] ANTICIPATION IN MYOTONIC-DYSTROPHY - FACT OR FICTION [J].

HOWELER, CJ ;

BUSCH, HFM ;

GERAEDTS, JPM ;

NIERMEIJER, MF ;

STAAL, A .

BRAIN, 1989, 112 :779-797

[8] MAPPING OF DNA INSTABILITY AT THE FRAGILE-X TO A TRINUCLEOTIDE REPEAT SEQUENCE P(CCG)N [J].

KREMER, EJ ;

PRITCHARD, M ;

LYNCH, M ;

YU, S ;

HOLMAN, K ;

BAKER, E ;

WARREN, ST ;

SCHLESSINGER, D ;

SUTHERLAND, GR ;

RICHARDS, RI .

SCIENCE, 1991, 252 (5013) :1711-1714

[9]

LAIRD CD, 1987, GENETICS, V117, P587

[10] INSTABILITY OF A 550 BASE PAIR DNA SEGMENT AND ABNORMAL METHYLATION IN FRAGILE X-SYNDROME [J].

OBERLE, I ;

ROUSSEAU, F ;

HEITZ, D ;

KRETZ, C ;

DEVYS, D ;

HANAUER, A ;

BOUE, J ;

BERTHEAS, MF ;

MANDEL, JL .

SCIENCE, 1991, 252 (5009) :1097-1102

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