Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 12 de 12
Filter
2.
Euro Surveill ; 18(5)2013 Jan 31.
Article in English | MEDLINE | ID: mdl-23399423

ABSTRACT

This study evaluates the influenza vaccine effectiveness (VE) in preventing laboratory-confirmed cases in Navarre, Spain, in the 2011/12 season in which the peak was delayed until week 7 of 2012. We conducted a test-negative case­control study. Patients with influenza-like illness in hospitals and primary healthcare were swabbed for testing by reverse transcription-polymerase chain reaction. Influenza vaccination status and other covariates were obtained from healthcare databases. The vaccination status of confirmed cases and negative controls was compared after adjusting for potential confounders. VE was calculated as (1-odds ratio)x100. The 411 confirmed cases (93% influenza A(H3)) were compared with 346 controls. Most characterised viruses did not match the vaccine strains. The adjusted estimate of VE was 31% (95% confidence interval (CI): -21 to 60) for all patients, 44% (95% CI: -11 to 72) for those younger than 65 years and 19% (95% CI: -146 to 73) for those 65 or older. The VE was 61% (95% CI: 5 to 84) in the first 100 days after vaccination, 42% (95% CI: -39 to 75) between 100 and 119 days, and zero thereafter. This decline mainly affected people aged 65 or over. These results suggest a low preventive effect of the 2011/12 seasonal influenza vaccine, and a decline in VE with time since vaccination.


Subject(s)
Influenza A virus/genetics , Influenza Vaccines/immunology , Influenza, Human/epidemiology , Influenza, Human/prevention & control , Adolescent , Adult , Age Factors , Aged , Aged, 80 and over , Case-Control Studies , Child , Child, Preschool , Confidence Intervals , Female , Humans , Incidence , Infant , Infant, Newborn , Influenza A virus/immunology , Influenza A virus/isolation & purification , Influenza Vaccines/administration & dosage , Influenza, Human/diagnosis , Influenza, Human/virology , Logistic Models , Male , Middle Aged , Primary Health Care , Reverse Transcriptase Polymerase Chain Reaction , Seasons , Sentinel Surveillance , Spain/epidemiology , Time Factors , Treatment Outcome , Vaccination/statistics & numerical data , Young Adult
3.
An. sist. sanit. Navar ; 34(2): 193-202, mayo-ago. 2011. graf, tab, ilus
Article in Spanish | IBECS | ID: ibc-90206

ABSTRACT

Fundamento. En 2007 se introdujo la vacunación universalfrente a la varicela en el calendario vacunal deNavarra. Este estudio tiene por objeto evaluar el impactode dicha medida en la incidencia de varicela tanto enlas cohortes vacunadas (efecto directo), como en las novacunadas (efecto indirecto).Material y métodos. La varicela es una enfermedad dedeclaración obligatoria individualizada. Analizamos laincidencia anual por grupos de edad entre 2006 y 2010.Del conjunto mínimo básico de datos al alta hospitalariase tomaron los ingresos con diagnóstico principal de varicelao de varicela complicada de los años 2006 a 2009.Resultados. La incidencia de varicela ha disminuido un93,0%, desde 8,04 casos por 1.000 habitantes en 2006 a0,56 por 1000 habitantes en 2010 (p<0,0001). En niñosde 1 a 6 años (cohortes vacunadas), la incidencia de lavaricela ha disminuido un 96,3%. En las cohortes vacunadasa los 10 y 14 años, también se observa un descensodel 93,6% en niños de 10 a 14 años, y de un 85,0% enlos de 15 a 19 años. En los grupos de edad no vacunadosobservamos descensos del 88,2% en los niños menoresde un año, del 73,3% en los de 7 a 9 años, y del 84,6% enpersonas mayores de 20 años.En 2006 se produjeron 25 ingresos hospitalarios por varicelaen Navarra y en 2009 esta cifra descendió a 7. Latasa de ingresos descendió un 73%.Conclusión. La introducción de la vacunación universalde la varicela en Navarra ha llevado a una disminuciónrápida y muy pronunciada de la incidencia de la varicela,tanto en vacunados como en no vacunados(AU)


Background. In 2007 universal varicella vaccinationwas introduced in the childhood immunization scheduleof of Navarre. The aim of this study is to evaluate theimpact of this measure on the incidence of varicella inboth vaccinated cohorts (direct effect) and in the unvaccinated(indirect effect).Material and methods. Varicella is a notifiable disease.We analyzed the annual incidence by age groups between2006 and 2010. Hospital admissions with varicellaor complicated varicella as the principal diagnosis wereobtained from the minimum basic data set on hospitaldischarges for the years 2006 to 2009.Results. The incidence of varicella has decreased by93.0%, from 8.04 cases per 1,000 inhabitants in 2006 to0.56 per 1,000 inhabitants in 2010 (p<0,0001). In childrenfrom 1 to 6 years (vaccinated cohorts), the incidenceof varicella has fallen by 96.3%. In the cohortsvaccinated at 10 and 14 years, a decrease of 93.6% canalso be observed in children from 10 to 14 years, and of85.0% in those of 15 to 19 years. In the unvaccinated agegroups we can observe falls of 88.2% in children underone year, of 73.3% in those of 7 to 9 years, and of 84.6%in people over 20 years.In 2006 there were 25 hospital admissions due to varicellain Navarre and in 2009 this figure decreased to 7. Therate of admissions fell by 73%.Conclusion. The introduction of universal varicellavaccination in Navarre has resulted in a rapid and verysteep reduction of the incidence of varicella in bothvaccinated and unvaccinated people(AU)


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Chickenpox/diagnosis , Chickenpox/history , Chickenpox/pathology , Vaccination/ethics , Immunization Programs/ethics , Immunization Programs/supply & distribution , Chickenpox/epidemiology , Chickenpox/etiology , Chickenpox/nursing , Chickenpox/prevention & control , Immunization Programs , Immunization Programs/methods , Immunization Programs/statistics & numerical data , Immunization Programs/trends
4.
Euro Surveill ; 16(7)2011 Feb 17.
Article in English | MEDLINE | ID: mdl-21345321

ABSTRACT

We defined a cohort of people with major chronic conditions (152,585 subjects) in Navarre, Spain, using electronic records from physicians, to obtain 2010/11 mid-season estimates of influenza vaccine effectiveness. The adjusted estimates of the effectiveness of the 2010/11 trivalent influenza vaccine were 31% (95% confidence interval (CI): 20­40%) in preventing medically attended influenza-like illness, and 58% (95% CI: 11­80%) in preventing laboratory-confirmed influenza. Having received the monovalent influenza A(H1N1)2009 vaccine in the 2009/10 season had an independent preventive effect against medically attended influenza-like illness (17%, 95% CI: 1­30%), and having received both vaccines had 68% (95% CI: 23­87%) effectiveness in preventing laboratory-confirmed influenza.


Subject(s)
Chronic Disease , Disease Outbreaks/prevention & control , Influenza A Virus, H1N1 Subtype/immunology , Influenza Vaccines/immunology , Influenza, Human/prevention & control , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Confidence Intervals , Female , Humans , Incidence , Infant , Influenza Vaccines/therapeutic use , Influenza, Human/epidemiology , Influenza, Human/immunology , Influenza, Human/virology , Male , Middle Aged , Population Surveillance , Primary Health Care , Prospective Studies , Seasons , Spain/epidemiology , Treatment Outcome , Young Adult
5.
An Sist Sanit Navar ; 31(2): 171-92, 2008.
Article in Spanish | MEDLINE | ID: mdl-18953365

ABSTRACT

This article reviews the publications on the effectiveness of heptavalent-pneumococcal conjugate vaccine (PCV7) in the prevention of invasive pneumococcal disease (IPD) in children under five years of age. It also analyses the characteristics of the vaccine and its impact on the epidemiology of IPD in different places. Before the introduction of PCV7, the percentage of cases of IPD due to vaccine serogroups oscillated between 89% in the United States and 43% in Asia. In Spain it was 68%. Active laboratory-based surveillance shows that the introduction of PCV7 has had a highly variable impact on the incidence of IPD, with falls oscillating between 91% in the United States and 12% in Navarre, Spain. The global effectiveness of VNC7v in published studies varies between 31% and 89%, chiefly depending on the patterns of pneumococcal serotypes in each place. Numerous studies show a variable replacement capacity of the pneumococci, which means the effect of the vaccine can be reduced, as non-vaccine serotypes occupy the space left by the vaccine ones. A study in Navarre has found a risk of IPD due to non-vaccine serotypes that is 6 times higher in vaccinated children than in unvaccinated ones. In places where less than 70% of the serotypes that cause IPD are represented in the VNC7v, the effectiveness of its introduction in the vaccination will probably be slight and the routine vaccination schedule serotypes fast. In these cases, VNC7v could be reserved for children with IPD risk factors.


Subject(s)
Pneumococcal Infections/prevention & control , Pneumococcal Vaccines , Vaccines, Conjugate , Adolescent , Adult , Child , Female , Heptavalent Pneumococcal Conjugate Vaccine , Humans , Incidence , Infant , Infant, Newborn , Male , Pneumococcal Infections/epidemiology , Pneumococcal Infections/microbiology , Pneumococcal Vaccines/immunology , Population Surveillance , Serotyping , Streptococcus pneumoniae/classification , Vaccines, Conjugate/immunology , Young Adult
6.
An. sist. sanit. Navar ; 31(2): 171-192, mayo-ago.2008. tab
Article in Es | IBECS | ID: ibc-67369

ABSTRACT

En el presente trabajo se revisan las publicaciones sobre la efectividad de la vacuna neumocócica conjugada heptavalente (VNC7v) en la prevención de enfermedad neumocócica invasiva (ENI) en niños menores de 5 años. También se analizan las características de la vacuna y su impacto en la epidemiología de la ENI en distintos lugares. Antes de la introducción de la VNC7v el porcentaje de casos de ENI debidos a serogrupos vacunales oscilaba entre el 89% en Estados Unidos y el 43% en Asia. En España era del 68%. La vigilancia activa basada en laboratorios demuestra que la introducción de la VNC7v ha tenido un impacto muy variable en la incidencia de ENI, con descensos que oscilan entre el 91% en Estados Unidos y el 12% en Navarra, España. La efectividad global de la VNC7v en trabajos publicados va desde el 31% al 89%, dependiendo principalmente de los patrones de serotipos de neumococo predominantes en cada lugar. Numerosos estudios demuestran una capacidad variable de reemplazo del neumococo, que hace que el efecto de la vacuna pueda verse mermado, al ir ocupando los serotipos no vacunales el lugar dejado por los vacunales. Un estudio en Navarra ha encontrado un riesgo de ENI por serogrupos no vacunales 6 veces mayor en los niños vacunados que en los no vacunados. En lugares donde menos del 70% de los serotipos causantes de ENI están representados en la VNC7v, la efectividad de su introducción en el calendario vacunal será probablemente escasa y el reemplazo de serotipos rápido. En estos casos la VNC7v podría reservarse para niños con factores de riesgo para ENI (AU)


This article reviews the publications on the effectiveness of heptavalent-pneumococcal conjugate vaccine (PCV7) in the prevention of invasive pneumococcal disease (IPD) in children under five years of age. It also analyses the characteristics of the vaccine and its impact on the epidemiology of IPD in different places. Before the introduction of PCV7, the percentage of cases of IPD due to vaccine serogroups oscillated between 89% in the United States and 43% in Asia. In Spain it was 68%. Active laboratory-based surveillance shows that the introduction of PCV7 has had a highly variable impact on the incidence of IPD, with falls oscillating between 91% in the United States and 12% in Navarre, Spain. The global effectiveness of VNC7v in published studies varies between 31% and 89%, chiefly depending on the patterns of pneumococcal serotypes in each place. Numerous studies show a variable replacement capacity of the pneumococci, which means the effect of the vaccine can be reduced, as non-vaccine serotypes occupy the space left by the vaccine ones. A study in Navarre has found a risk of IPD due to non-vaccine serotypes that is 6 times higher in vaccinated children than in unvaccinated ones. In places where less than 70% of the serotypes that cause IPD are represented in the VNC7v, the effectiveness of its introduction in the vaccination will probably be slight and the routine vaccination schedule serotypes fast. In these cases, VNC7v could be reserved for children with IPD risk factors (AU)


Subject(s)
Humans , Male , Female , Child , Child, Preschool , Infant , Pneumonia, Pneumococcal/immunology , Pneumococcal Vaccines/administration & dosage , Pneumococcal Vaccines/supply & distribution , Pneumococcal Vaccines/therapeutic use , Efficacy/methods , Epidemiological Monitoring , Vaccines, Conjugate/immunology , Vaccines, Conjugate/therapeutic use , Pneumonia, Pneumococcal/epidemiology , Otitis/epidemiology , Otitis/prevention & control , Otitis Media/epidemiology , Sinusitis/epidemiology , Bronchitis/epidemiology
7.
An Sist Sanit Navar ; 31(1): 71-80, 2008.
Article in Spanish | MEDLINE | ID: mdl-18496581

ABSTRACT

Varicella is an acute and highly contagious disease produced by the varicella-zoster virus, which leaves lasting immunity. Herpes zoster is produced by reactivation of a latent infection of the same virus. The introduction of systematic and free vaccination against varicella in children of 15 months in Navarre from 2007 onwards can be expected to produce important epidemiological changes. For this reason we describe the previous epidemiological situation in the period from 2005 to 2006. We analysed all cases of varicella and herpes zoster registered in the electronic clinical files of primary care, in the database of hospital discharges and in the mortality register. Between 2005 and 2006, 9,908 cases of varicella were diagnosed (8.29 annually per 1,000 inhabitants), with 90% in children under 15 years old. There were 80 hospital admissions (8 for every 1,000 cases), complications in 2.5 out of every 1,000 cases, and there was one death due to this cause (0.1 per 1,000 cases). In the same period, 4,959 cases of herpes zoster were diagnosed (4.15 cases per 1,000 inhabitants), half in people over 55 years old. There were 179 hospital admissions (36 per 1,000 cases), whose average age was 77, and 83 presented complications (16.7 per 1,000 cases). This epidemiological pattern is similar to that found in other places before the introduction of the vaccine.


Subject(s)
Chickenpox Vaccine , Chickenpox/epidemiology , Chickenpox/prevention & control , Herpes Zoster Vaccine , Herpes Zoster/epidemiology , Herpes Zoster/prevention & control , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Incidence , Infant , Male , Middle Aged , Spain/epidemiology
8.
An. sist. sanit. Navar ; 31(1): 71-80, ene.-abr. 2008. ilus, tab
Article in Es | IBECS | ID: ibc-64433

ABSTRACT

La varicela es una enfermedad aguda muy contagiosa producida por el virus varicela-zoster, que deja inmunidad duradera. El herpes zóster se produce por reactivación de una infección latente por el mismo virus. La introducción de la vacunación sistemática y gratuita frente a la varicela en niños de 15 meses de Navarra desde 2007, previsiblemente producirá cambios epidemiológicos importantes. Por ello, describimos la situación epidemiológica previa, en el periodo 2005-2006.Se han analizado los casos de varicela y herpes zóster registrados en las historias clínicas informatizadas de atención primaria, en la base de datos de altas hospitalarias (CMBD) y en el registro de mortalidad. Entre 2005 y 2006 se diagnosticaron 9908 casos de varicela (8,29 anuales por 1000 habitantes), siendo el 90% en menores de 15 años. Hubo 80 ingresos (8 por cada 1000 casos), complicaciones en 2,5 de cada 1.000 casos y se produjo un fallecimiento por esta causa (0,1 por 1000 casos). En el mismo periodo se diagnosticaron 4.959 casos de herpes zóster (4,15 casos anuales por 1.000 habitantes), la mitad en mayores de 55 años. Hubo 179 ingresos (36 por 1.000 casos), cuya edad media fue de77 años, y 83 presentaron complicaciones (16,7 por 1.000 casos). Este patrón epidemiológico es similar al encontrado en otros lugares antes de la introducción de la vacuna (AU)


Varicella is an acute and highly contagious disease produced by the varicella-zoster virus, which leaves lasting immunity. Herpes zoster is produced by reactivation of a latent infection of the same virus. The introduction of systematic and free vaccination against varicella in children of 15 months in Navarre from 2007 onwards can be expected to produce important epidemiological changes. For this reason we describe the previous epidemiological situation in the period from 2005 to 2006.We analysed all cases of varicella and herpes zoster registered in the electronic clinical files of primary care, in the database of hospital discharges and in the mortality register. Between 2005 and 2006, 9,908 cases of varicella were diagnosed (8.29 annually per 1,000 in habitants), with 90% in children under 15 years old. There were 80 hospital admissions (8 for every 1,000 cases), complications in 2.5 out of every 1,000 cases, and there was one death due to this cause (0.1 per 1,000 cases). In the same period, 4,959 cases of herpes zoster were diagnosed (4.15 cases per 1,000 in habitants), half in people over 55 years old. There were 179 hospital admissions (36 per 1,000 cases), whose average age was 77, and 83 presented complications (16.7 per 1,000 cases).This epidemiological pattern is similar to that found in other places before the introduction of the vaccine (AU)


Subject(s)
Humans , Male , Female , Chickenpox Vaccine/immunology , Chickenpox Vaccine/therapeutic use , Chickenpox/epidemiology , Chickenpox/immunology , Herpes Zoster/epidemiology , Herpes Zoster/immunology , Chickenpox Vaccine/supply & distribution , Mass Vaccination/methods , Mass Vaccination/trends , Vaccination/methods , Vaccination , Immunity
9.
An Sist Sanit Navar ; 30 Suppl 2: 21-32, 2007.
Article in Spanish | MEDLINE | ID: mdl-17898826

ABSTRACT

BACKGROUND: To describe the tendency and epidemiological characteristics of tuberculosis and estimate the prevalence of tuberculosis infection in Navarre. Methods. An analysis was made of the cases of tuberculosis reported in the 1993-2006 period, completed with microbiological information and data from other registries. RESULTS: The incidence of tuberculosis in Navarre declined from 24.0 cases per 100,000 inhabitants in 1993 to 13.7 per 100,000 in 2006. Between 2000 and 2006 the incidence of tuberculosis fell by an annual 6.5% in those born in Spain and by an annual 9.3% in those born in other countries. In the 2004-2006 period, the diagnoses of tuberculosis were more frequent in males (60%), between the ages of 25 and 34 years (26.1%), and over 65 years of age (24.1%), and in persons born in Spain (69.0%). Four point three percent of the cases were coinfected with HIV. Six point six percent had had prior antituberculosis treatment, 5.4% showed resistance to some antituberculosis drug, and 2.3% resistance to more than one. There was a predominance of pulmonary forms (68.9%) and 37% of the total had positive sputum bacilloscopy. Death occurred in 6.2% of the cases before treatment was finalised. Between 2004 and 2006 15 clusters of cases were detected, 11 amongst cohabitants. Ninety-three percent of the secondary cases occurred from index cases born in Spain. CONCLUSION: There has been a notable advance in the control of tuberculosis, both in the native population and in that from other countries, although there is still room for improvement.


Subject(s)
Tuberculosis/epidemiology , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Incidence , Male , Middle Aged , Prevalence , Spain/epidemiology
10.
An. sist. sanit. Navar ; 30(supl.2): 21-32, 2007. ilus, tab
Article in Es | IBECS | ID: ibc-056270

ABSTRACT

Fundamento. Describir la tendencia y características epidemiológicas de la tuberculosis y estimar la prevalencia de infección tuberculosa en Navarra. Métodos. Se analizaron los casos de tuberculosis declarados en el periodo 1993-2006, completados con información microbiológica y de otros registros sanitarios. Resultados. La incidencia de tuberculosis en Navarra pasó de 24,0 casos por 100.000 habitantes en 1993 a 13,7 por 100.000 en 2006. Entre 2000 y 2006 la incidencia de tuberculosis descendió un 6,5% anual en los nacidos en España y un 9,3% anual en nacidos en otros países. En el periodo 2004-2006 los diagnósticos de tuberculosis fueron más frecuentes en varones (60%), entre edades de 25 a 34 años (26,1%) y a partir de 65 años (24,1%), y en personas nacidas en España (69,0%). El 4,3% de los casos estaban coinfectados por VIH. Un 6,6% habían tenido tratamiento antituberculoso previo, el 5,4% presentaban resistencia a algún antituberculoso y el 2,3% a más de uno. Predominaron las formas pulmonares (68,9%) y el 37% del total tuvo baciloscopia de esputo positiva. En el 6,2% de los casos se produjo el fallecimiento antes de finalizar el tratamiento. Entre 2004 y 2006 se detectaron 15 agregaciones de casos, 11 entre convivientes. El 93% de los casos secundarios se produjeron a partir de casos índice nacidos en España. La prevalencia estimada de infección tuberculosa es inferior al 3% en niños, alcanza el 7,7% a los 14 años y el 40% en adultos. Conclusión. Se ha avanzado notablemente en el control de la tuberculosis, tanto en población autóctona como de otros países, aunque queda margen de mejora


epidemiological characteristics of tuberculosis and estimate the prevalence of tuberculosis infection in Navarre. Methods. An analysis was made of the cases of tuberculosis reported in the 1993-2006 period, completed with microbiological information and data from other registries. Results. The incidence of tuberculosis in Navarre declined from 24.0 cases per 100,000 inhabitants in 1993 to 13.7 per 100,000 in 2006. Between 2000 and 2006 the incidence of tuberculosis fell by an annual 6.5% in those born in Spain and by an annual 9.3% in those born in other countries. In the 2004-2006 period, the diagnoses of tuberculosis were more frequent in males (60%), between the ages of 25 and 34 years (26.1%), and over 65 years of age (24.1%), and in persons born in Spain (69.0%). Four point three percent of the cases were coinfected with HIV. Six point six percent had had prior antituberculosis treatment, 5.4% showed resistance to some antituberculosis drug, and 2.3% resistance to more than one. There was a predominance of pulmonary forms (68.9%) and 37% of the total had positive sputum bacilloscopy. Death occurred in 6.2% of the cases before treatment was finalised. Between 2004 and 2006 15 clusters of cases were detected, 11 amongst cohabitants. Ninety-three percent of the secondary cases occurred from index cases born in Spain. Conclusion. There has been a notable advance in the control of tuberculosis, both in the native population and in that from other countries, although there is still room for improvement


Subject(s)
Male , Female , Humans , Tuberculosis/epidemiology , Antitubercular Agents/administration & dosage , Tuberculin/administration & dosage , Tuberculin/therapeutic use , 28640/trends , Population Forecast/methods , Tuberculin Test/methods , Tuberculin Test , Spain/epidemiology , Antitubercular Agents/supply & distribution , Primary Health Care/methods , Primary Health Care/trends , Indicators of Morbidity and Mortality
11.
Acta pediatr. esp ; 60(6): 313-315, jun. 2002. ilus
Article in Es | IBECS | ID: ibc-12893

ABSTRACT

La septicemia como complicación de un hemangioma infectado es una situación infrecuente. Se presenta el caso de un niño de 3 años con hemangiomatosis múltiple que, en el contexto de una infección de su hemangioma, desarrolló una sepsis por estreptococo betahemolítico del grupo G (EBHGG). A pesar de la sensibilidad in vitro a la penicilina, no se obtuvo respuesta clínica y se precisaron otros antibióticos (AU)


Subject(s)
Male , Child , Humans , Angiomatosis/complications , Angiomatosis/diagnosis , Angiomatosis/etiology , Cellulite/complications , Cellulite/diagnosis , Cellulite/therapy , Sepsis/complications , Sepsis/diagnosis , Streptococcus/isolation & purification , Hemangioma/complications , Hemangioma/diagnosis , Echocardiography, Doppler/methods , Ceftriaxone/administration & dosage , Ceftriaxone/therapeutic use , Vitamin K/administration & dosage , Vitamin K/therapeutic use , Risk Factors , Streptococcal Infections/complications , Streptococcal Infections/diagnosis , Streptococcal Infections/etiology , Penicillins/administration & dosage , Penicillins/therapeutic use , Sepsis/complications , Sepsis/diagnosis , Sepsis/etiology
12.
J Clin Endocrinol Metab ; 81(6): 2328-34, 1996 Jun.
Article in English | MEDLINE | ID: mdl-8964872

ABSTRACT

We examined the nucleotide sequence of the arginine vasopressin-neurophysin II gene in three kindreds with autosomal dominant neurohypophyseal diabetes insipidus. Each of the three different mutations identified represents a recurrence of a mutation previously described to cause this disease. These mutations are all transitions (C1761-->T, G1859-->A, and G279-->A) that encode amino acid substitutions Pro24-->Leu, Gly57-->Ser (both in neurophysin II), and Ala-->Thr (in the last amino acid at the C-terminus of the signal peptide). The presence of these mutations in genomic DNA was confirmed by alterations in restriction endonuclease recognition sites. A linkage map of distal chromosome 20 was constructed. To examine the possibility that these apparent recurrent mutations arose independently rather than by an ancestral founder mutation, we analyzed family origins, two polymorphic markers on chromosome 20 in close proximity with this gene (the oxytocin/XbaI restriction fragment length polymorphism and the D20S57 polymorphic CA repeat microsatellite), and/or the occurrence of a de novo mutation in our three families and in four additional families previously reported. Our results suggest that one of our families may share an ancestral founder mutation with one previously reported family, but that in the remainder of the families with identical mutations, these mutations probably arose independently.


Subject(s)
Diabetes Insipidus/genetics , Diabetes Insipidus/physiopathology , Genes, Dominant , Genes , Mutation , Neurophysins/genetics , Pituitary Gland, Posterior/physiopathology , Alleles , DNA Restriction Enzymes , Deoxyribonucleases, Type II Site-Specific/genetics , Dinucleotide Repeats , Humans , Polymorphism, Restriction Fragment Length , Recurrence
SELECTION OF CITATIONS
SEARCH DETAIL
...