USE OF PCR FOR THE DETERMINATION OF THE FREQUENCY OF THE DELTA-F508 MUTATION IN BRAZILIAN CYSTIC-FIBROSIS PATIENTS

被引：3
|
作者：
DEMIRANDA, AB
LLERENA, J
DALLALANA, LT
MOURANETO, RS
SUFFYS, PN
DEGRAVE, WM
机构：
[1] INST OSWALDO CRUZ,DEPT BIOQUIM & BIOL MOLEC,AVE BRASIL 4365,BR-21045-900 RIO JANEIRO,RJ,BRAZIL
[2] FDN OSWALDO CRUZ,INST FERNANDES FIGUEIRA,RIO JANEIRO,BRAZIL
[3] UNIV FED RIO DE JANEIRO,INST BIOL,DEPT GENET,RIO JANEIRO,BRAZIL
来源：
MEMORIAS DO INSTITUTO OSWALDO CRUZ | 1993年 / 88卷 / 02期
关键词：
CYSTIC FIBROSIS; PCR; DELTA-F508; DIAGNOSIS;
D O I：
10.1590/S0074-02761993000200022
中图分类号：
R38 [医学寄生虫学]; Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ; 100103 ;
摘要：
The DELTAF508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion.
引用
收藏
页码：309 / 312
页数：4
相关论文
共 50 条
  • [21] ANALYSIS DELTA-F508 MUTATION IN CYSTIC-FIBROSIS PATHOLOGY SPECIMENS
    OZGUC, M
    TEKIN, A
    ERDEM, H
    YILMAZ, E
    AYTER, S
    COSKUN, T
    CAN, A
    GOGUS, S
    CAGLAR, M
    KALE, G
    AKCOREN, Z
    PEDIATRIC PATHOLOGY, 1994, 14 (03): : 491 - 496
  • [22] PRELIMINARY-RESULTS ON THE FREQUENCY OF THE DELTA-F508 MUTATION IN CYSTIC-FIBROSIS PATIENTS FROM THE USSR
    RONCHETTO, P
    DEVOTO, M
    PULITI, A
    ROMEO, G
    SOKOLOV, B
    KALININ, VN
    VORSANOVA, SG
    KRAINIAIA, GV
    REZNIK, BY
    HUMAN GENETICS, 1990, 85 (04) : 423 - 424
  • [23] THE MUTATION DELTA-F508 ON DUTCH CYSTIC-FIBROSIS CHROMOSOMES - FREQUENCY AND RELATION TO PATIENTS AGE AT DIAGNOSIS
    HALLEY, DJJ
    VEEZE, HJ
    SANDKUYL, LA
    WESBYVANSWAAY, E
    VANDAMME, NHM
    DEELEN, WH
    WITTE, JE
    NIERMEIJER, MF
    HUMAN GENETICS, 1990, 85 (04) : 407 - 408
  • [24] CYSTIC-FIBROSIS .1. FREQUENCY OF THE DELTA-F508 MUTATION IN SOUTH-AFRICAN FAMILIES WITH CYSTIC-FIBROSIS
    DENTER, M
    RAMSAY, M
    JENKINS, T
    SOUTH AFRICAN MEDICAL JOURNAL, 1992, 82 (01): : 7 - 10
  • [25] THE DISTRIBUTION OF THE DELTA-F508 MUTATION IN A GROUP OF DECEASED CYSTIC-FIBROSIS (CF) PATIENTS
    MILLA, CE
    REGELMANN, WE
    WIELINSKI, C
    AMERICAN REVIEW OF RESPIRATORY DISEASE, 1993, 147 (04): : A579 - A579
  • [26] FREQUENCY OF DELTA-F508 IN A MEXICAN SAMPLE OF CYSTIC-FIBROSIS PATIENTS DIAGNOSED AT AUTOPSY
    OROZCO, L
    MORENO, M
    CHAVEZ, M
    RIDAURA, C
    LOPEZCORELLA, E
    LEZANA, JL
    CARNEVALE, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1209 - 1209
  • [27] THE DELTA-F508 MUTATION IN MILD ADULT FORMS OF CYSTIC-FIBROSIS (CF)
    SIMONBOUY, B
    MORNET, E
    TAILLANDIER, A
    SERRE, JL
    BOUE, J
    BOUE, A
    CLINICAL GENETICS, 1991, 39 (04) : 304 - 305
  • [28] PREIMPLANTATION DIAGNOSIS OF DELTA-F508 MUTATION OF CYSTIC-FIBROSIS IN TRANSGENIC MICE
    JI, YZ
    NICOLAS, JC
    MARECHAL, V
    DESIRE, N
    PAVIRANI, A
    MILLIEZ, J
    PRESSE MEDICALE, 1995, 24 (26): : 1193 - 1197
  • [29] THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULATIONS
    MORRAL, N
    BERTRANPETIT, J
    ESTIVILL, X
    NUNES, V
    CASALS, T
    GIMENEZ, J
    REIS, A
    VARONMATEEVA, R
    MACEK, M
    KALAYDJIEVA, L
    ANGELICHEVA, D
    DANCHEVA, R
    ROMEO, G
    RUSSO, MP
    GARNERONE, S
    RESTAGNO, G
    FERRARI, M
    MAGNANI, C
    CLAUSTRES, M
    DESGEORGES, M
    SCHWARTZ, M
    SCHWARZ, M
    DALLAPICCOLA, B
    NOVELLI, G
    FEREC, C
    DEARCE, M
    NEMETI, M
    KERE, T
    ANVRET, M
    DAHL, N
    KADASI, L
    NATURE GENETICS, 1994, 7 (02) : 169 - 175
  • [30] A POOLING STRATEGY FOR HETEROZYGOTE SCREENING OF THE DELTA-F508 CYSTIC-FIBROSIS MUTATION
    GILLE, C
    GRADE, K
    COUTELLE, C
    HUMAN GENETICS, 1991, 86 (03) : 289 - 291
12345