DELETIONS WITH INVERSIONS - REPORT OF A MUTATION AND REVIEW OF THE LITERATURE

被引：16

作者：

KETTERLING, RP

RICKE, DO

WURSTER, MW

SOMMER, SS

机构：

[1] MAYO CLIN & MAYO FDN,DEPT BIOCHEM & MOLEC BIOL,ROCHESTER,MN 55905

[2] ST LUKES HOSP,KANSAS CITY,MO 64111

来源：

HUMAN MUTATION | 1993年 / 2卷 / 01期

关键词：

HEMOPHILIA-B FACTOR-IX; GERMLINE MUTATION; DELETION JUNCTION; INVERSION JUNCTION;

D O I：

10.1002/humu.1380020110

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Herein we report a 10.9 kb deletion and a 95 bp inversion in a patient with severe hemophilia B (factor IX(HB209)). With the addition of factor IX(HB209), three of six characterized deletions in the factor IX gene are now known to include inversions. A high frequency of combined deletions and inversions has not previously been described in a human gene.

引用

页码：53 / 57

页数：5

共 34 条

[1] RECOMBINATIONS BETWEEN ALU REPEAT SEQUENCES THAT RESULT IN PARTIAL DELETIONS WITHIN THE C1-INHIBITOR GENE
ARIGA, T
CARTER, PE
DAVIS, AE
[J]. GENOMICS, 1990, 8 (04) : 607 - 613
[2] IDENTICAL 3250-BP DELETION BETWEEN 2 ALUL REPEATS IN THE ADA GENES OF UNRELATED ADA-SCID PATIENTS
BERKVENS, TM
VANORMONDT, H
GERRITSEN, EJA
KHAN, PM
VANDEREB, AJ
[J]. GENOMICS, 1990, 7 (04) : 486 - 490
[3] SHORT, DIRECT REPEATS AT THE BREAKPOINTS OF DELETIONS OF THE RETINOBLASTOMA GENE
CANNING, S
DRYJA, TP
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (13) : 5044 - 5048
[4] CHEN SH, 1990, AM J HUM GENET, V47, P1020
[5] DASGUPTA U, 1987, GENETICS, V115, P41
[6] THE STRUCTURE AND EVOLUTION OF THE HUMAN BETA-GLOBIN GENE FAMILY
EFSTRATIADIS, A
POSAKONY, JW
MANIATIS, T
LAWN, RM
OCONNELL, C
SPRITZ, RA
DERIEL, JK
FORGET, BG
WEISSMAN, SM
SLIGHTOM, JL
BLECHL, AE
SMITHIES, O
BARALLE, FE
SHOULDERS, CC
PROUDFOOT, NJ
[J]. CELL, 1980, 21 (03) : 653 - 668
[7] HEMOPHILIA-B - DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS - 3RD EDITION, 1992
GIANNELLI, F
GREEN, PM
HIGH, KA
SOMMER, S
LILLICRAP, DP
LUDWIG, M
OLEK, K
REITSMA, PH
GOOSSENS, M
YOSHIOKA, A
BROWNLEE, GG
[J]. NUCLEIC ACIDS RESEARCH, 1992, 20 : 2027 - 2063
[8] GREEN PM, 1988, MOL BIOL MED, V5, P95
[9] GREGER V, 1990, AM J HUM GENET, V46, P1187
[10] PARAMETERS AFFECTING THE YIELD OF DNA FROM HUMAN-BLOOD
GUSTAFSON, S
PROPER, JA
BOWIE, EJW
SOMMER, SS
[J]. ANALYTICAL BIOCHEMISTRY, 1987, 165 (02) : 294 - 299

← 1 2 3 4 →