Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15

被引:68
作者
Wandstrat, AE
Leana-Cox, J
Jenkins, L
Schwartz, S
机构
[1] Case Western Reserve Univ, Sch Med, Dept Genet, Cleveland, OH 44106 USA
[2] Univ Hosp Cleveland, Ctr Human Genet, Cleveland, OH 44106 USA
[3] Univ Maryland, Dept Obstet Gynecol, Div Human Genet, Baltimore, MD 21201 USA
[4] Univ Maryland, Dept Pediat, Baltimore, MD 21201 USA
[5] Kaiser Permanente Med Grp, San Jose, CA USA
关键词
D O I
10.1086/301777
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Chromosomes from 20 patients were used to delineate the breakpoints of inverted duplications of chromosome 15 (inv dup[15]) that include the Prader-Willi syndrome/Angelman syndrome (PWS/AS) chromosomal region (15q11-q13), YAC and cosmid clones from 15q11-q14 were used for FISH analysis, to detect the presence or absence of material on each inv dup(15). We describe two types of inv dup(15): those that break between D15S12 and D15S24, near the distal boundary of the PWS/AS chromosomal region, and those that share a breakpoint immediately proximal to D15S1010. Among the latter group, no breakpoint heterogeneity could be detected with the available probes, and one YAC (810f11) showed a reduced signal on each inv dup(15), compared with that on normal chromosomes 15. The lack of breakpoint heterogeneity may be the result of a U-type exchange involving particular sequences on either homologous chromosomes or sister chromatids. Parent-of-origin studies revealed that, in all the cases analyzed, the inv dup(15) was maternal in origin.
引用
收藏
页码:925 / 936
页数:12
相关论文
共 44 条
[1]  
Amos-Landgraf J., 1994, American Journal of Human Genetics, V55, pA38
[2]   A LINKAGE MAP OF HUMAN-CHROMOSOME-15 WITH AN AVERAGE RESOLUTION OF 2 CM AND CONTAINING 55 POLYMORPHIC MICROSATELLITES [J].
BECKMANN, JS ;
TOMFOHRDE, J ;
BARNES, RI ;
WILLIAMS, M ;
BROUX, O ;
RICHARD, I ;
WEISSENBACH, J ;
BOWCOCK, AM .
HUMAN MOLECULAR GENETICS, 1993, 2 (12) :2019-2030
[3]   44 PROBANDS WITH AN ADDITIONAL MARKER CHROMOSOME [J].
BUCKTON, KE ;
SPOWART, G ;
NEWTON, MS ;
EVANS, HJ .
HUMAN GENETICS, 1985, 69 (04) :353-370
[4]   A PUTATIVE GENE FAMILY IN 15Q11-13 AND 16P11.2 - POSSIBLE IMPLICATIONS FOR PRADER-WILLI AND ANGELMAN SYNDROMES [J].
BUITING, K ;
GREGER, V ;
BROWNSTEIN, BH ;
MOHR, RM ;
VOICULESCU, I ;
WINTERPACHT, A ;
ZABEL, B ;
HORSTHEMKE, B .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (12) :5457-5461
[5]   SMALL MARKER CHROMOSOMES IN MAN - ORIGIN FROM PERICENTRIC HETEROCHROMATIN OF CHROMOSOME-1, CHROMOSOME-9, AND CHROMOSOME-16 [J].
CALLEN, DF ;
RINGENBERGS, ML ;
FOWLER, JCS ;
FREEMANTLE, CJ ;
HAAN, EA .
JOURNAL OF MEDICAL GENETICS, 1990, 27 (03) :155-159
[6]  
CHENG SD, 1994, AM J HUM GENET, V55, P753
[7]  
CHRISTIAN SI, 1995, AM J HUM GENET, V57, P40
[8]  
CROLLA JA, 1995, HUM GENET, V95, P161
[9]  
Flejter WL, 1996, AM J MED GENET, V61, P182, DOI 10.1002/(SICI)1096-8628(19960111)61:2<182::AID-AJMG17>3.0.CO
[10]  
2-Q