ASCERTAINMENT AND SEVERITY OF MARFAN-SYNDROME IN A SCOTTISH POPULATION

被引:79
作者
GRAY, JR
BRIDGES, AB
FAED, MJW
PRINGLE, T
BAINES, P
DEAN, J
BOXER, M
机构
[1] NINEWELLS HOSP & MED SCH,DEPT CARDIOL,DUNDEE DD1 9SY,SCOTLAND
[2] NINEWELLS HOSP & MED SCH,DEPT OPHTHALMOL,DUNDEE DD1 9SY,SCOTLAND
[3] ABERDEEN ROYAL INFIRM,DEPT CLIN GENET,ABERDEEN,SCOTLAND
关键词
D O I
10.1136/jmg.31.1.51
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) and there is evidence of reduced reproductive fitness.
引用
收藏
页码:51 / 54
页数:4
相关论文
共 17 条
[1]   INTERNATIONAL NOSOLOGY OF HERITABLE DISORDERS OF CONNECTIVE-TISSUE, BERLIN, 1986 [J].
BEIGHTON, P ;
DEPAEPE, A ;
DANKS, D ;
FINIDORI, G ;
GEDDEDAHL, T ;
GOODMAN, R ;
HALL, JG ;
HOLLISTER, DW ;
HORTON, W ;
MCKUSICK, VA ;
OPITZ, JM ;
POPE, FM ;
PYERITZ, RE ;
RIMOIN, DL ;
SILLENCE, D ;
SPRANGER, JW ;
THOMPSON, E ;
TSIPOURAS, P ;
VILJOEN, D ;
WINSHIP, I ;
YOUNG, I .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (03) :581-594
[2]  
BLANK CE, 1960, ANN HUM GENET, V24, P151
[3]   MITRAL-VALVE PROLAPSE - CAUSES, CLINICAL MANIFESTATIONS, AND MANAGEMENT [J].
DEVEREUX, RB ;
KRAMERFOX, R ;
KLIGFIELD, P .
ANNALS OF INTERNAL MEDICINE, 1989, 111 (04) :305-317
[4]  
EMERY AEH, 1986, METHODOLOGY MED GENE
[5]   A GENETIC-STUDY OF VONRECKLINGHAUSEN NEUROFIBROMATOSIS IN SOUTH EAST WALES .1. PREVALENCE, FITNESS, MUTATION-RATE, AND EFFECT OF PARENTAL TRANSMISSION ON SEVERITY [J].
HUSON, SM ;
COMPSTON, DAS ;
CLARK, P ;
HARPER, PS .
JOURNAL OF MEDICAL GENETICS, 1989, 26 (11) :704-711
[6]   MARFANS SYNDROME IN NORTHERN-IRELAND - AN ACCOUNT OF 13 FAMILIES [J].
LYNAS, MA .
ANNALS OF HUMAN GENETICS, 1958, 22 (04) :289-301
[7]  
Marfan AB., 1896, B MEM SOC MED HOP P, V13, P6
[8]   PARENTAL AGE EFFECTS ON OCCURRENCE OF NEW MUTATIONS FOR MARFAN SYNDROME [J].
MURDOCH, JL ;
WALKER, BA ;
MCKUSICK, VA .
ANNALS OF HUMAN GENETICS, 1972, 35 (MAR) :331-&
[9]  
Pyeritz R E, 1979, Birth Defects Orig Artic Ser, V15, P155
[10]  
PYERITZ RE, 1986, AM FAM PHYSICIAN, V34, P83