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1.
Braz. j. biol ; Braz. j. biol;78(4): 697-705, Nov. 2018. tab, graf
Artículo en Inglés | LILACS | ID: biblio-951600

RESUMEN

Abstract Between July 2014 and April 2015, we conducted weekly inventories of the circadian activity patterns of mammals in Passo Novo locality, municipality of Alegrete, southern Brazil. The vegetation is comprised by a grassy-woody steppe (grassland). We used two camera traps alternately located on one of four 1 km transects, each separated by 1 km. We classified the activity pattern of species by the percentage of photographic records taken in each daily period. We identify Cuniculus paca individuals by differences in the patterns of flank spots. We then estimate the density 1) considering the area of riparian forest present in the sampling area, and 2) through capture/recapture analysis. Cuniculus paca, Conepatus chinga and Hydrochoerus hydrochaeris were nocturnal, Cerdocyon thous had a crepuscular/nocturnal pattern, while Mazama gouazoubira was cathemeral. The patterns of circadian activity observed for medium and large mammals in this Pampa region (southern grasslands) may reflect not only evolutionary, biological and ecological affects, but also human impacts not assessed in this study. We identified ten individuals of C. paca through skin spot patterns during the study period, which were recorded in different transects and months. The minimum population density of C. paca was 3.5 individuals per km2 (resident animals only) and the total density estimates varied from 7.1 to 11.8 individuals per km2, when considering all individuals recorded or the result of the capture/recapture analysis, respectively.


Resumo De julho de 2014 a abril de 2015, realizamos levantamentos semanais para estudar padrões de atividade circadiana da mastofauna na localidade de Passo Novo, Alegrete, sul do Brasil. A vegetação é compreendida por savana estépica (campo). Utilizamos duas armadilhas fotográficas distribuídas alternadamente ao longo de quatro transectos, com extensão de 1 km e distantes cerca de 1 km entre si. Nós classificamos o padrão de atividade das espécies através da percentagem de fotos registradas em cada período diário. Nós identificamos indivíduos de Cuniculus paca através dos diferentes padrões de manchas nos flancos dos animais. Nós então estimamos a densidade 1) considerando a área de floresta ripária presente na área amostrada, e 2) através da análise de captura/recaptura. As espécies Cuniculus paca, Conepatus chinga e Hydrochoerus hydrochaeris foram classificadas como noturnas, Cerdocyon thous apresentou um padrão crepuscular/noturno, enquanto Mazama gouazoubira foi classificada como catemeral. O padrão de atividade circadiana observado para os mamíferos de médio e grande porte nessa região do Pampa (campos sulinos) pode refletir não só aspectos evolutivos, biológicos e ecológicos, mas também impactos humanos não avaliados nesse estudo. Através do padrão de manchas da pelagem de C. paca nós identificamos dez indivíduos durante o período de estudo, que foram registrados em diferentes transectos e meses. A densidade populacional mínima de C. paca foi de 3,5 ind/km2 (apenas indivíduos residentes) e a densidade total variou de 7,1 a 11,8 ind/km2, quando consideramos todos os indivíduos registrados ou com base em análises de captura e recaptura, respectivamente.


Asunto(s)
Animales , Ritmo Circadiano/fisiología , Mamíferos/fisiología , Brasil , Bosques , Densidad de Población , Ecología , Evolución Biológica
2.
Braz. J. Biol. ; 78(4): 697-705, Nov. 2018. mapas, tab, graf
Artículo en Inglés | VETINDEX | ID: vti-736194

RESUMEN

Between July 2014 and April 2015, we conducted weekly inventories of the circadian activity patterns of mammals in Passo Novo locality, municipality of Alegrete, southern Brazil. The vegetation is comprised by a grassy-woody steppe (grassland). We used two camera traps alternately located on one of four 1 km transects, each separated by 1 km. We classified the activity pattern of species by the percentage of photographic records taken in each daily period. We identify Cuniculus paca individuals by differences in the patterns of flank spots. We then estimate the density 1) considering the area of riparian forest present in the sampling area, and 2) through capture/recapture analysis. Cuniculus paca, Conepatus chinga and Hydrochoerus hydrochaeris were nocturnal, Cerdocyon thous had a crepuscular/nocturnal pattern, while Mazama gouazoubira was cathemeral. The patterns of circadian activity observed for medium and large mammals in this Pampa region (southern grasslands) may reflect not only evolutionary, biological and ecological affects, but also human impacts not assessed in this study. We identified ten individuals of C. paca through skin spot patterns during the study period, which were recorded in different transects and months. The minimum population density of C. paca was 3.5 individuals per km2 (resident animals only) and the total density estimates varied from 7.1 to 11.8 individuals per km2, when considering all individuals recorded or the result of the capture/recapture analysis, respectively.(AU)


De julho de 2014 a abril de 2015, realizamos levantamentos semanais para estudar padrões de atividade circadiana da mastofauna na localidade de Passo Novo, Alegrete, sul do Brasil. A vegetação é compreendida por savana estépica (campo). Utilizamos duas armadilhas fotográficas distribuídas alternadamente ao longo de quatro transectos, com extensão de 1 km e distantes cerca de 1 km entre si. Nós classificamos o padrão de atividade das espécies através da percentagem de fotos registradas em cada período diário. Nós identificamos indivíduos de Cuniculus paca através dos diferentes padrões de manchas nos flancos dos animais. Nós então estimamos a densidade 1) considerando a área de floresta ripária presente na área amostrada, e 2) através da análise de captura/recaptura. As espécies Cuniculus paca, Conepatus chinga e Hydrochoerus hydrochaeris foram classificadas como noturnas, Cerdocyon thous apresentou um padrão crepuscular/noturno, enquanto Mazama gouazoubira foi classificada como catemeral. O padrão de atividade circadiana observado para os mamíferos de médio e grande porte nessa região do Pampa (campos sulinos) pode refletir não só aspectos evolutivos, biológicos e ecológicos, mas também impactos humanos não avaliados nesse estudo. Através do padrão de manchas da pelagem de C. paca nós identificamos dez indivíduos durante o período de estudo, que foram registrados em diferentes transectos e meses. A densidade populacional mínima de C. paca foi de 3,5 ind/km2 (apenas indivíduos residentes) e a densidade total variou de 7,1 a 11,8 ind/km2, quando consideramos todos os indivíduos registrados ou com base em análises de captura e recaptura, respectivamente.(AU)


Asunto(s)
Animales , Cuniculidae , Ritmo Circadiano , Fotoperiodo , Densidad de Población , Pradera
3.
Braz J Biol ; 78(4): 697-705, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29489928

RESUMEN

Between July 2014 and April 2015, we conducted weekly inventories of the circadian activity patterns of mammals in Passo Novo locality, municipality of Alegrete, southern Brazil. The vegetation is comprised by a grassy-woody steppe (grassland). We used two camera traps alternately located on one of four 1 km transects, each separated by 1 km. We classified the activity pattern of species by the percentage of photographic records taken in each daily period. We identify Cuniculus paca individuals by differences in the patterns of flank spots. We then estimate the density 1) considering the area of riparian forest present in the sampling area, and 2) through capture/recapture analysis. Cuniculus paca, Conepatus chinga and Hydrochoerus hydrochaeris were nocturnal, Cerdocyon thous had a crepuscular/nocturnal pattern, while Mazama gouazoubira was cathemeral. The patterns of circadian activity observed for medium and large mammals in this Pampa region (southern grasslands) may reflect not only evolutionary, biological and ecological affects, but also human impacts not assessed in this study. We identified ten individuals of C. paca through skin spot patterns during the study period, which were recorded in different transects and months. The minimum population density of C. paca was 3.5 individuals per km2 (resident animals only) and the total density estimates varied from 7.1 to 11.8 individuals per km2, when considering all individuals recorded or the result of the capture/recapture analysis, respectively.


Asunto(s)
Ritmo Circadiano/fisiología , Mamíferos/fisiología , Animales , Evolución Biológica , Brasil , Ecología , Bosques , Densidad de Población
4.
Artículo en Inglés | VETINDEX | ID: vti-726339

RESUMEN

Abstract Between July 2014 and April 2015, we conducted weekly inventories of the circadian activity patterns of mammals in Passo Novo locality, municipality of Alegrete, southern Brazil. The vegetation is comprised by a grassy-woody steppe (grassland). We used two camera traps alternately located on one of four 1 km transects, each separated by 1 km. We classified the activity pattern of species by the percentage of photographic records taken in each daily period. We identify Cuniculus paca individuals by differences in the patterns of flank spots. We then estimate the density 1) considering the area of riparian forest present in the sampling area, and 2) through capture/recapture analysis. Cuniculus paca, Conepatus chinga and Hydrochoerus hydrochaeris were nocturnal, Cerdocyon thous had a crepuscular/nocturnal pattern, while Mazama gouazoubira was cathemeral. The patterns of circadian activity observed for medium and large mammals in this Pampa region (southern grasslands) may reflect not only evolutionary, biological and ecological affects, but also human impacts not assessed in this study. We identified ten individuals of C. paca through skin spot patterns during the study period, which were recorded in different transects and months. The minimum population density of C. paca was 3.5 individuals per km2 (resident animals only) and the total density estimates varied from 7.1 to 11.8 individuals per km2, when considering all individuals recorded or the result of the capture/recapture analysis, respectively.


Resumo De julho de 2014 a abril de 2015, realizamos levantamentos semanais para estudar padrões de atividade circadiana da mastofauna na localidade de Passo Novo, Alegrete, sul do Brasil. A vegetação é compreendida por savana estépica (campo). Utilizamos duas armadilhas fotográficas distribuídas alternadamente ao longo de quatro transectos, com extensão de 1 km e distantes cerca de 1 km entre si. Nós classificamos o padrão de atividade das espécies através da percentagem de fotos registradas em cada período diário. Nós identificamos indivíduos de Cuniculus paca através dos diferentes padrões de manchas nos flancos dos animais. Nós então estimamos a densidade 1) considerando a área de floresta ripária presente na área amostrada, e 2) através da análise de captura/recaptura. As espécies Cuniculus paca, Conepatus chinga e Hydrochoerus hydrochaeris foram classificadas como noturnas, Cerdocyon thous apresentou um padrão crepuscular/noturno, enquanto Mazama gouazoubira foi classificada como catemeral. O padrão de atividade circadiana observado para os mamíferos de médio e grande porte nessa região do Pampa (campos sulinos) pode refletir não só aspectos evolutivos, biológicos e ecológicos, mas também impactos humanos não avaliados nesse estudo. Através do padrão de manchas da pelagem de C. paca nós identificamos dez indivíduos durante o período de estudo, que foram registrados em diferentes transectos e meses. A densidade populacional mínima de C. paca foi de 3,5 ind/km2 (apenas indivíduos residentes) e a densidade total variou de 7,1 a 11,8 ind/km2, quando consideramos todos os indivíduos registrados ou com base em análises de captura e recaptura, respectivamente.

5.
Braz. j. biol ; Braz. j. biol;2017.
Artículo en Inglés | LILACS-Express | LILACS, VETINDEX | ID: biblio-1467147

RESUMEN

Abstract Between July 2014 and April 2015, we conducted weekly inventories of the circadian activity patterns of mammals in Passo Novo locality, municipality of Alegrete, southern Brazil. The vegetation is comprised by a grassy-woody steppe (grassland). We used two camera traps alternately located on one of four 1 km transects, each separated by 1 km. We classified the activity pattern of species by the percentage of photographic records taken in each daily period. We identify Cuniculus paca individuals by differences in the patterns of flank spots. We then estimate the density 1) considering the area of riparian forest present in the sampling area, and 2) through capture/recapture analysis. Cuniculus paca, Conepatus chinga and Hydrochoerus hydrochaeris were nocturnal, Cerdocyon thous had a crepuscular/nocturnal pattern, while Mazama gouazoubira was cathemeral. The patterns of circadian activity observed for medium and large mammals in this Pampa region (southern grasslands) may reflect not only evolutionary, biological and ecological affects, but also human impacts not assessed in this study. We identified ten individuals of C. paca through skin spot patterns during the study period, which were recorded in different transects and months. The minimum population density of C. paca was 3.5 individuals per km2 (resident animals only) and the total density estimates varied from 7.1 to 11.8 individuals per km2, when considering all individuals recorded or the result of the capture/recapture analysis, respectively.


Resumo De julho de 2014 a abril de 2015, realizamos levantamentos semanais para estudar padrões de atividade circadiana da mastofauna na localidade de Passo Novo, Alegrete, sul do Brasil. A vegetação é compreendida por savana estépica (campo). Utilizamos duas armadilhas fotográficas distribuídas alternadamente ao longo de quatro transectos, com extensão de 1 km e distantes cerca de 1 km entre si. Nós classificamos o padrão de atividade das espécies através da percentagem de fotos registradas em cada período diário. Nós identificamos indivíduos de Cuniculus paca através dos diferentes padrões de manchas nos flancos dos animais. Nós então estimamos a densidade 1) considerando a área de floresta ripária presente na área amostrada, e 2) através da análise de captura/recaptura. As espécies Cuniculus paca, Conepatus chinga e Hydrochoerus hydrochaeris foram classificadas como noturnas, Cerdocyon thous apresentou um padrão crepuscular/noturno, enquanto Mazama gouazoubira foi classificada como catemeral. O padrão de atividade circadiana observado para os mamíferos de médio e grande porte nessa região do Pampa (campos sulinos) pode refletir não só aspectos evolutivos, biológicos e ecológicos, mas também impactos humanos não avaliados nesse estudo. Através do padrão de manchas da pelagem de C. paca nós identificamos dez indivíduos durante o período de estudo, que foram registrados em diferentes transectos e meses. A densidade populacional mínima de C. paca foi de 3,5 ind/km2 (apenas indivíduos residentes) e a densidade total variou de 7,1 a 11,8 ind/km2, quando consideramos todos os indivíduos registrados ou com base em análises de captura e recaptura, respectivamente.

6.
Braz J Biol ; 76(1): 228-32, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26871745

RESUMEN

Home range and minimal population densities of Southern tiger cat (Leopardus guttulus), margay (Lepardus wiedii) and jaguarundi (Puma yagouaroundi) were estimated between 2005 and 2006 in Taquari Valley, near the southern edge of the Atlantic Rainforest in Brazil. Home range data were collected by conventional radio telemetry (VHF) locations in a highly fragmented landscape. The average home range size, calculated using 95% kernel density estimates, was 16.01 km2 for Southern tiger cat, 21.85 km2 for margay and 51.45 km2 for jaguarundi. Telemetry data were used to obtain minimal density estimates of 0.08 Southern tiger cats / km2, and 0.04 jaguarundi / km2. The density estimates arise from areas where ocelot (Leopardus pardalis) and other larger-bodied carnivores were locally extinct, and they suggest a specific type of mesopredator release known as the ocelot effect, which is likely enabling the increase in smaller felid populations in this area.


Asunto(s)
Felidae/fisiología , Fenómenos de Retorno al Lugar Habitual , Animales , Brasil , Bosques , Densidad de Población , Puma/fisiología , Especificidad de la Especie
7.
Braz. j. biol ; 76(1): 228-232, Feb. 2016. tab
Artículo en Inglés | VETINDEX | ID: vti-25383

RESUMEN

Abstract Home range and minimal population densities of Southern tiger cat (Leopardus guttulus), margay (Lepardus wiedii) and jaguarundi (Puma yagouaroundi) were estimated between 2005 and 2006 in Taquari Valley, near the southern edge of the Atlantic Rainforest in Brazil. Home range data were collected by conventional radio telemetry (VHF) locations in a highly fragmented landscape. The average home range size, calculated using 95% kernel density estimates, was 16.01 km2 for Southern tiger cat, 21.85 km2 for margay and 51.45 km2 for jaguarundi. Telemetry data were used to obtain minimal density estimates of 0.08 Southern tiger cats / km2, and 0.04 jaguarundi / km2. The density estimates arise from areas where ocelot (Leopardus pardalis) and other larger-bodied carnivores were locally extinct, and they suggest a specific type of mesopredator release known as the ocelot effect, which is likely enabling the increase in smaller felid populations in this area.(AU)


Resumo Neste estudo são apresentadas áreas de vida e estimativas mínimas de densidade populacional do gato-do-mato-pequeno (Leopardus guttulus), gato-maracajá (Leopardus wiedii) e gato-mourisco (Puma yagouaroundi) obtidas entre 2005 e 2006, no Vale do Taquari, próximo ao limite sul da Mata Atlântica no Brasil. Os dados sobre área de vida foram coletados com a utilização de telemetria convencional (VHF) em uma paisagem altamente fragmentada. A área de vida média, calculada por Kernel 95%, foi de 16,01 km2 para o gato- do-mato-pequeno, 21,85 km2 para o gato-maracajá e 51,45 km2 para o gato-mourisco. Os dados de telemetria foram utilizados para obter uma estimativa de densidade mínima de 0,08 gatos-do-mato-pequenos por km2, e 0,04 gatos-mourisco por km2. As estimativas de densidade são oriundas de áreas sem a presença de jaguatiricas (Leopardus pardalis) ou outros predadores de maior porte, todos localmente extintos, com possíveis efeitos de um tipo específico de relaxamento de mesopredadores, conhecido como Efeito Pardalis que podem permitir o aumento do tamanho das populações de gatos menores.(AU)


Asunto(s)
Animales , Felidae/anatomía & histología , Telemetría/veterinaria
8.
Braz. j. biol ; Braz. j. biol;76(1): 228-232, Feb. 2016. tab
Artículo en Inglés | LILACS | ID: lil-774500

RESUMEN

Abstract Home range and minimal population densities of Southern tiger cat (Leopardus guttulus), margay (Lepardus wiedii) and jaguarundi (Puma yagouaroundi) were estimated between 2005 and 2006 in Taquari Valley, near the southern edge of the Atlantic Rainforest in Brazil. Home range data were collected by conventional radio telemetry (VHF) locations in a highly fragmented landscape. The average home range size, calculated using 95% kernel density estimates, was 16.01 km2 for Southern tiger cat, 21.85 km2 for margay and 51.45 km2 for jaguarundi. Telemetry data were used to obtain minimal density estimates of 0.08 Southern tiger cats / km2, and 0.04 jaguarundi / km2. The density estimates arise from areas where ocelot (Leopardus pardalis) and other larger-bodied carnivores were locally extinct, and they suggest a specific type of mesopredator release known as the ocelot effect, which is likely enabling the increase in smaller felid populations in this area.


Resumo Neste estudo são apresentadas áreas de vida e estimativas mínimas de densidade populacional do gato-do-mato-pequeno (Leopardus guttulus), gato-maracajá (Leopardus wiedii) e gato-mourisco (Puma yagouaroundi) obtidas entre 2005 e 2006, no Vale do Taquari, próximo ao limite sul da Mata Atlântica no Brasil. Os dados sobre área de vida foram coletados com a utilização de telemetria convencional (VHF) em uma paisagem altamente fragmentada. A área de vida média, calculada por Kernel 95%, foi de 16,01 km2 para o gato- do-mato-pequeno, 21,85 km2 para o gato-maracajá e 51,45 km2 para o gato-mourisco. Os dados de telemetria foram utilizados para obter uma estimativa de densidade mínima de 0,08 gatos-do-mato-pequenos por km2, e 0,04 gatos-mourisco por km2. As estimativas de densidade são oriundas de áreas sem a presença de jaguatiricas (Leopardus pardalis) ou outros predadores de maior porte, todos localmente extintos, com possíveis efeitos de um tipo específico de relaxamento de mesopredadores, conhecido como “Efeito Pardalis” que podem permitir o aumento do tamanho das populações de gatos menores.


Asunto(s)
Animales , Felidae/fisiología , Fenómenos de Retorno al Lugar Habitual , Brasil , Bosques , Densidad de Población , Puma/fisiología , Especificidad de la Especie
9.
Braz. J. Biol. ; 76(1)2016.
Artículo en Inglés | VETINDEX | ID: vti-744753

RESUMEN

Abstract Home range and minimal population densities of Southern tiger cat (Leopardus guttulus), margay (Lepardus wiedii) and jaguarundi (Puma yagouaroundi) were estimated between 2005 and 2006 in Taquari Valley, near the southern edge of the Atlantic Rainforest in Brazil. Home range data were collected by conventional radio telemetry (VHF) locations in a highly fragmented landscape. The average home range size, calculated using 95% kernel density estimates, was 16.01 km2 for Southern tiger cat, 21.85 km2 for margay and 51.45 km2 for jaguarundi. Telemetry data were used to obtain minimal density estimates of 0.08 Southern tiger cats / km2, and 0.04 jaguarundi / km2. The density estimates arise from areas where ocelot (Leopardus pardalis) and other larger-bodied carnivores were locally extinct, and they suggest a specific type of mesopredator release known as the ocelot effect, which is likely enabling the increase in smaller felid populations in this area.


Resumo Neste estudo são apresentadas áreas de vida e estimativas mínimas de densidade populacional do gato-do-mato-pequeno (Leopardus guttulus), gato-maracajá (Leopardus wiedii) e gato-mourisco (Puma yagouaroundi) obtidas entre 2005 e 2006, no Vale do Taquari, próximo ao limite sul da Mata Atlântica no Brasil. Os dados sobre área de vida foram coletados com a utilização de telemetria convencional (VHF) em uma paisagem altamente fragmentada. A área de vida média, calculada por Kernel 95%, foi de 16,01 km2 para o gato- do-mato-pequeno, 21,85 km2 para o gato-maracajá e 51,45 km2 para o gato-mourisco. Os dados de telemetria foram utilizados para obter uma estimativa de densidade mínima de 0,08 gatos-do-mato-pequenos por km2, e 0,04 gatos-mourisco por km2. As estimativas de densidade são oriundas de áreas sem a presença de jaguatiricas (Leopardus pardalis) ou outros predadores de maior porte, todos localmente extintos, com possíveis efeitos de um tipo específico de relaxamento de mesopredadores, conhecido como Efeito Pardalis que podem permitir o aumento do tamanho das populações de gatos menores.

11.
Hum Mutat ; 16(3): 203-10, 2000 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-10980527

RESUMEN

Two-base substitutions at each of two nucleotides in the factor IX gene (F9), but not part of CpG dinucleotides, were recently reported in a small population sample collected in Mexico, a significant observation of recurrent sites ("hotspots") of mutation (P=0.00005). When these new data were combined with previously collected mutation data into two progressively larger and inclusive Latin American samples, additional mutations were observed at one recurrent site, nucleotide 17747, and an additional recurrent nucleotide was observed such that the recurrent nucleotides in these larger samples were also significant (P=0.0003 and 0.0003). In contrast, in three non-Latin American control samples, there was at most only one nucleotide that recurred only once, most likely a chance recurrence (P>/=0.5). When the significance of substitutions was analyzed at each recurrent nucleotide individually, nucleotide 17747 was shown to be a significant recurrent nucleotide by itself in all the Latin American population samples (P

Asunto(s)
Islas de CpG/genética , Factor IX/genética , Mutación de Línea Germinal/genética , Programas Informáticos , Femenino , Variación Genética , Genética de Población , Humanos , Masculino , México/etnología , Recombinación Genética/genética
12.
Hum Mutat ; 11(5): 372-6, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9600455

RESUMEN

Exogenous (e.g., environmental) mutagens produce characteristic patterns of mutation. In contrast, endogenous mutation processes likely are associated with an invariant pattern of mutation. Analysis of factor IX gene mutations among large samples of hemophilia B patients from multiple, widely divergent geographic and ethnic populations reveals a remarkably constant mutational pattern, suggesting that the primary germline mutational process results from endogenous processes rather than environmental mutagens. To test this hypothesis further, we have initiated a study of hemophilia B patients from Peru because relatively large populations of AmerIndians can be found with low admixtures of other races. To determine if the factor IX (FIX) germline mutational pattern in AmerIndians differs from the common and putative endogenous pattern, FIX gene mutations were characterized in an initial sample of 10 AmerIndian Peruvian patients with hemophilia B. A minimum of 2.2 kb of the FIX gene was examined by PCR and direct sequencing of all eight exons, the splice junctions, and the promoter region. The pattern of germline mutation in AmerIndians was similar to the pattern of FIX germline mutations from larger U. S. Caucasian or Mexican Hispanic samples (P=0.55 and 0.63, respectively). The similar pattern in this initial sample of the Peru AmerIndian population provides additional support for the inference that the FIX germline mutational pattern results from predominantly endogenous processes rather than exogenous mutagens.


Asunto(s)
Mutación de Línea Germinal/genética , Hemofilia B/genética , Indígenas Norteamericanos/genética , Factor IX/genética , Hemofilia B/etnología , Hispánicos o Latinos/genética , Humanos , Americanos Mexicanos/genética , Perú , Población Blanca/genética
13.
Thromb Haemost ; 74(6): 1416-22, 1995 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-8772212

RESUMEN

Germline mutations in patients with hemophilia B generally have arisen within the past 150 years. Evidence suggests that these germline mutations generally result from endogenous processes. However, a unique pattern would be expected if a population were exposed to a physiologically important germline mutagen since mutagens generally produce characteristic patterns, or "fingerprints", of mutation. To determine the pattern of mutation in Mexican Hispanics, the regions of likely functional significance in the factor IX gene were screened by dideoxy fingerprinting (ddF) in 31 families with hemophilia B. Mutations were found in 30 of these families. Haplotype analysis was performed on individuals with identical mutations to help distinguish independent, recurrent mutations from founder effects. Analysis of these 30 mutations, along with 7 mutations reported previously in Mexican Hispanic families, reveals a pattern of independent mutation that is similar to the pattern of mutation observed in 127 U.S. Caucasian families (p = 0.89). These results may reflect either an underlying pattern of germline mutation due to endogenous processes or the presence of an ubiquitous mutagen. Further analyses of the recurrent mutations revealed that two mutations, T296M and R248Q, accounted for 19% of the mutations found in the Mexicans. Haplotype data suggest that the multiple occurrences of T296M and R248Q are associated with founder effects and that screening for these mutations may allow rapid mutation detection and carrier diagnosis in a significant minority of Mexican families with hemophilia B, These two mutations also are associated with founder effects in the U.S, Caucasian population. However, the haplotypes are different in these two populations, indicating independent origins. The occurrence of identical founder mutations in distinct populations provides evidence for the previous hypothesis that the number of different mutations giving rise to mild or borderline mild/moderate hemophilia B is small compared to deleterious mutations causing more severe disease.


Asunto(s)
Factor IX/genética , Efecto Fundador , Mutación de Línea Germinal , Hemofilia B/genética , Femenino , Haplotipos , Hemofilia B/epidemiología , Humanos , Masculino , México/epidemiología , Estados Unidos/epidemiología , Población Blanca/genética
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