Detection of Delta F508 mutation in cystic fibrosis patients from Northwestern Mexico

被引：0
|
作者：
Martinez, SEF
Arreola, MPG
Moguel, MCM
Corona, JS
机构：
来源：
ANNALES DE GENETIQUE | 1997年 / 40卷 / 03期
关键词：
cystic fibrosis; polymerase chain reaction; Delta F508 mutation; GENETIC-ANALYSIS;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
In order to know the frequency of Delta F508 allele in Northwestern Mexican patients with cystic fibrosis, we carried out the amplification of a region from exon 10 of the CF gene by means of PCR in 45 unrelated patients selected by sweat test and clinical criteria, From 90 chromosomes, only 31 (34.4 %) showed the Delta F508 mutation, distributed in 9 homozygotes and 13 heterozygotes, These result suggest that other mutations are responsible of CF in the population of Northwestern Mexico.
引用
收藏
页码：189 / 191
页数：3
相关论文
共 50 条
  • [1] The delta F508 mutation in cystic fibrosis and impact on sinus development
    Woodworth, Bradford A.
    Ahn, Chadwick
    Flume, Patrick A.
    Schlosser, Rodney J.
    AMERICAN JOURNAL OF RHINOLOGY, 2007, 21 (01): : 122 - 127
  • [2] Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis
    Kaplan, TA
    MocciaLoos, G
    Rabin, M
    McKey, RM
    CLINICAL JOURNAL OF SPORT MEDICINE, 1996, 6 (04): : 226 - 231
  • [3] Nutrional status and dietary factors in cystic fibrosis patients with delta F508 mutation
    Santos, Carina de Sousa
    Steemburgo, Thais
    REVISTA DE NUTRICAO-BRAZILIAN JOURNAL OF NUTRITION, 2015, 28 (04): : 359 - 369
  • [4] Phenotypic variability of cystic fibrosis: case report of twins with F508/F508 mutation
    Fernanda Hernandez-Amaris, Maria
    Maria Gomez-Vasquez, Ana
    Pachajoa H, Harry
    REVISTA CHILENA DE PEDIATRIA-CHILE, 2014, 85 (04): : 470 - 475
  • [5] Preimplantation genetic diagnosis of cystic fibrosis (Delta F508)
    Ao, A
    Handyside, A
    Winston, RML
    EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 1996, 65 (01): : 7 - 10
  • [6] The cystic fibrosis Delta F508 gene mutations and cancer
    Padua, RA
    Warren, N
    Grimshaw, D
    Smith, M
    Lewis, C
    Whittaker, J
    Laidler, P
    Wright, P
    DouglasJones, A
    Fenaux, P
    Sharma, A
    Horgan, K
    West, R
    HUMAN MUTATION, 1997, 10 (01) : 45 - 48
  • [7] Detection of the ΔF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology
    Feriotto, G
    Lucci, M
    Bianchi, N
    Mischiati, C
    Gambari, R
    HUMAN MUTATION, 1999, 13 (05) : 390 - 400
  • [8] Neonatal screening for the cystic fibrosis main mutation ΔF508 in Estonia
    Klaassen, T
    Teder, M
    Viikmaa, M
    Metspalu, A
    JOURNAL OF MEDICAL SCREENING, 1998, 5 (01) : 16 - 19
  • [9] Allele specific PCR with microfluorometry: application to the detection of del F508 mutation in cystic fibrosis
    Yamaguchi, A
    Nepote, JA
    Kadivar, M
    Tagami, Y
    Fukushi, M
    Kikuchi, Y
    Sato, N
    Kikuchia, K
    CLINICA CHIMICA ACTA, 2002, 316 (1-2) : 147 - 154
  • [10] Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508)
    Ao, A
    Ray, P
    Harper, J
    Lesko, J
    Paraschos, T
    Atkinson, G
    Soussis, I
    Taylor, D
    Handyside, A
    Hughes, M
    Winston, RML
    PRENATAL DIAGNOSIS, 1996, 16 (02) : 137 - 142
12345