The genes that cause Joubert syndrome has now been discovered by researchers. Gene was named "C5ORF42", which has caused the syndrome in some families in the St. Lawrence, Quebec, Canada. Origin of these genes remain unknown since the initial description of the syndrome in 1969.
This is revealed in studies in the April issue of the scientific journal "The American Journal of Human Genetics". The study was conducted by researchers from the Sainte-Justine University Hospital Research Center and the Centre of Excellence in Neuromics Université de Montréal (CENUM).
Joubert Syndrome is a condition that affects brain development and is seen in the development of delayed psychomotor coordination, abnormal eye movements and breathing disorders. Since Dr. Marie Joubert and his colleagues describe for the first time in 1969, a number of related genes have been identified in various populations, but the cause of the genes of Quebec is not known until now.
"There is no study conducted to identify the genetic origins of disease in Quebec, more specifically in the right areas in the Lower St. Lawrence, where the majority of cases are concentrated in Quebec," said Dr. Jacques Michaud, principal investigator of the study, cited from Science Daily.
"This is the first study to present a picture of Joubert syndrome in the population of Quebec. This will allow family members affected by the syndrome to assess the genetic risk of their children with a simple DNA test," he added.
This finding is interesting, both genetically and historically. Due to the Joubert Syndrome is present throughout the world, the genetic strain may change on a regional basis. Distribution associated with the history of the various population groups.
Quebec is no exception. In fact, 6,000 French Canadian settlers from Quebec City and surrounding areas settled in the Lower St. Lawrence region surrounding the late 17th century and early 18th century. The fact that most of the Lower St. Lawrence population today descend from a small group of settlers that show the effects of a genetic founder.
Indeed, the determination of founder mutations are transmitted to a large number of offspring, which increases the risk of genetic disease in the offspring.
To be sure, the study team identified three mutations Michaud Dr C5ORF42 that are common to most families. Overall, the seven families who carry the genes identified in the area of 400 km along Route 132.
In approximately two centuries, the colonists first lived in the Lower St. Lawrence and from there moved to other families settled along the river to the east as far as Mont-Joli and then along the Matapedia River.
According to Myriam Srour, a doctoral student and coordinator of the study, the mutation may spread in the population along the migration route.
So far 15 genes that play a role in the expression of the syndrome has been revealed elsewhere in the world. Dr Michaud and his team will continue their research to better understand the exact function of these genes and the specific effect of each mutation.
This is revealed in studies in the April issue of the scientific journal "The American Journal of Human Genetics". The study was conducted by researchers from the Sainte-Justine University Hospital Research Center and the Centre of Excellence in Neuromics Université de Montréal (CENUM).
Joubert Syndrome is a condition that affects brain development and is seen in the development of delayed psychomotor coordination, abnormal eye movements and breathing disorders. Since Dr. Marie Joubert and his colleagues describe for the first time in 1969, a number of related genes have been identified in various populations, but the cause of the genes of Quebec is not known until now.
"There is no study conducted to identify the genetic origins of disease in Quebec, more specifically in the right areas in the Lower St. Lawrence, where the majority of cases are concentrated in Quebec," said Dr. Jacques Michaud, principal investigator of the study, cited from Science Daily.
"This is the first study to present a picture of Joubert syndrome in the population of Quebec. This will allow family members affected by the syndrome to assess the genetic risk of their children with a simple DNA test," he added.
This finding is interesting, both genetically and historically. Due to the Joubert Syndrome is present throughout the world, the genetic strain may change on a regional basis. Distribution associated with the history of the various population groups.
Quebec is no exception. In fact, 6,000 French Canadian settlers from Quebec City and surrounding areas settled in the Lower St. Lawrence region surrounding the late 17th century and early 18th century. The fact that most of the Lower St. Lawrence population today descend from a small group of settlers that show the effects of a genetic founder.
Indeed, the determination of founder mutations are transmitted to a large number of offspring, which increases the risk of genetic disease in the offspring.
To be sure, the study team identified three mutations Michaud Dr C5ORF42 that are common to most families. Overall, the seven families who carry the genes identified in the area of 400 km along Route 132.
In approximately two centuries, the colonists first lived in the Lower St. Lawrence and from there moved to other families settled along the river to the east as far as Mont-Joli and then along the Matapedia River.
According to Myriam Srour, a doctoral student and coordinator of the study, the mutation may spread in the population along the migration route.
So far 15 genes that play a role in the expression of the syndrome has been revealed elsewhere in the world. Dr Michaud and his team will continue their research to better understand the exact function of these genes and the specific effect of each mutation.
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