Frequency of Delta-F508 Mutation and XV2C/KM19 Haplotypes in Cuban Cystic Fibrosis Families

Collazo, Teresa; Magariño, Carlos; Chavez, Raul A; Suardiaz, B.; Gispert, Suzana; Gómez, María Luisa Navarro; Rojo, M.; Heredero, L

doi:10.1159/000154256

Cited by 17 publications

(10 citation statements)

References 3 publications

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“…In contrast with our previous data [11] a lower frequency for p.F508del mutation (37.9%) was found, this discrepancy could be likely due to clinical criteria inclusion followed here. However, the present estimated prevalence is similar to other Latin American countries (Table 2) [3,[12][13][14][15][16][17].…”

Section: Resultscontrasting

confidence: 99%

Common mutations in cuban cystic fibrosis patients

Collazo

Bofill

Clark

et al. 2009

Journal of Cystic Fibrosis

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So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162X, p.N1303K, p.R334W, p.R553X and c.3120+1G>A) taking into account the ethnic origin of the Cuban population which is mainly influenced by Spanish and sub-Sahara African contribution. All but p.N1303K have been detected in our patients, the p.F508del being the most prevalent (37.9%). Overall, six mutations showed frequencies above 1% accounting for 55.5% of the Cuban CF alleles.

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Section: Resultscontrasting

confidence: 99%

Common mutations in cuban cystic fibrosis patients

Collazo

Bofill

Clark

et al. 2009

Journal of Cystic Fibrosis

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“…The frequency of this main mutation in Colombian CF patients is lower than the frequency in Northern European countries, USA and Canada, and similar to countries from Southern Europe (EWGCFC, 1990;Estivill et al, 1997), which apparently reflects the fact that the colonization of Colombia was mainly carried out by immigrants from Spain. Latin America's mean frequency (47.7%) (WHO Workshop 2002) is close to that from Colombia, but the range goes from 29% in Chile (Rios et al, 1994), 30% in Venezuela (Restrepo et al, 2000) and 34% in Cuba (Collazo et al, 1995), to 57% in Argentina (Chertkoff et al, 1997) and Uruguay (Luzardo et al, 1999).…”

Section: Resultsmentioning

confidence: 99%

“…Cystic Fibrosis has been documented in a few Latin American countries. The incidence of the disease ranges from 1/3.862 to 1/9.000 new-born in Cuba (Collazo et al, 1995) and Mexico (Orozco et al, 2000), respectively. The overall frequency of the p.F508del mutation in Latin America is 47.7% (WHO Workshop 2002) and 48% in Hispanic patients from USA (Grebe et al, 1994), but it varies from the lowest frequency in Chile (29.2%) (Rios et al, 1994) up to 62% in Argentina (Aulehla-Scholz et al, 1990).…”

Section: Introductionmentioning

confidence: 99%

CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programs

et al. 2003

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Cystic Fibrosis is a worldwide distributed hereditary disease. The incidence of the main (p.F508del) and other frequent mutations has been determined in a great number of countries and ethnic groups, but its incidence in most Latin American countries has remained unknown until recently. It is now beginning to be recognized as a frequent cause of infant mortality, and some countries report the incidence of their mutations. Colombia started several years ago a concerted program of molecular study of patients which were clinically diagnosed as probable cystic fibrosis. We screened the whole CFTR (ABCC7) coding sequence in 92 patients from 6 different geographic regions, using conventional PAGE analyses and DGGE followed by sequencing. Additionally, we established the frequency of the p.F508del mutation in 130 unrelated healthy controls. The results of this pilot study in Colombian patients from various ethnic admixture show six main mutations: p.F508del (41.8%), c.1811+1.6kbA>G (6.5%), p.G542X (3.8%), p.S549R (2.2%), p.W1282X (1.1%) and p.R1162X (1.1%). Thirteen other rare mutations, including three novel, were detected, accounting for a total of 63.6% known mutations. There is a great variability between the geographic regions, both in the frequency of the p.F508del mutation and non-p.F508del CF chromosomes. Our results point to a varied origin of the disease genes. These results also show that careful scrutiny of the mutations is needed in each part of Latin America in order to establish priority-screening protocols adapted to each country and region.

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“…DNA studies in cystic fibrosis demonstrated that the percentage of the five most common mutations accounts for no more than 60% of cases of this disease in Cuba [38]. …”

Section: Research In Medical Geneticsmentioning

confidence: 99%

Community-Based Program for the Diagnosis and Prevention of Genetic Disorders in Cuba

Heredero-Baute¹

2004

Public Health Genomics

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The author’s experience of 20 years as director of the medical genetic services program in Cuba is presented. The setting of the infrastructure for equipment and the training of personnel for the medical genetic program began in 1981 in the city of Havana, and was progressively extended to cover the whole country in 1988. Between 1982 and 2002, 2.8 million pregnant women were tested for sickle cell carrier status, 96,000 carriers and 4,786 couples at risk were detected and offered genetic counseling and prenatal diagnosis. In the same period, the combination of maternal serum α-fetoprotein screening and fetal ultrasound led to the prenatal diagnosis of anomalies in several thousand fetuses. The accessibility to legal abortion, and the autonomous decisions by the majority of couples to terminate abnormal pregnancies reduced the prevalence of neural tube defects and sickle cell disease at birth by 90 and 65%, respectively, by 2002. In the span of approximately 20 years, 22,690 pregnant women at risk received prenatal chromosomal diagnosis. Newborn screening for phenylketonuria and congenital hypothyroidism was established. Genetic counseling was offered to every detected person or family at risk for genetic conditions. The network of medical genetic services established in the country received a very positive acceptance by the population. A very successful connection with the primary health care level was established.

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Frequency of Delta-F508 Mutation and XV2C/KM19 Haplotypes in Cuban Cystic Fibrosis Families

Cited by 17 publications

References 3 publications

Common mutations in cuban cystic fibrosis patients

Common mutations in cuban cystic fibrosis patients

CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programs

Community-Based Program for the Diagnosis and Prevention of Genetic Disorders in Cuba

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