A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs
In this study, we performed careful clinical phenotyping to confirm hemophilia A in two distinct Labrador Retriever (LR) pedigrees. Whole-genome sequencing on an affected dog from litter 1 identified a case-specific frameshift deletion variant in F8 predicted to cause a premature stop codon (c.2923_2924del, p.(E975Kfs*8)). This variant was hemizygous in all the affected males from litter 1 (n = 3), while all the unaffected LRs in the pedigree were heterozygous or wild-type (n = 22). Additionally, screened samples from 199 LRs were all found to be wild-type. As a result of this study, a gene test can now be developed to scr...
Source: Animal Genetics - July 13, 2023 Category: Genetics & Stem Cells Authors: Marjo K Hyt önen Sanna Viitanen Sruthi Hundi Jonas Donner Hannes Lohi Maria Kaukonen Source Type: research
A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs
In this study, we performed careful clinical phenotyping to confirm hemophilia A in two distinct Labrador Retriever (LR) pedigrees. Whole-genome sequencing on an affected dog from litter 1 identified a case-specific frameshift deletion variant in F8 predicted to cause a premature stop codon (c.2923_2924del, p.(E975Kfs*8)). This variant was hemizygous in all the affected males from litter 1 (n = 3), while all the unaffected LRs in the pedigree were heterozygous or wild-type (n = 22). Additionally, screened samples from 199 LRs were all found to be wild-type. As a result of this study, a gene test can now be developed to scr...
Source: Animal Genetics - July 13, 2023 Category: Genetics & Stem Cells Authors: Marjo K Hyt önen Sanna Viitanen Sruthi Hundi Jonas Donner Hannes Lohi Maria Kaukonen Source Type: research
A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs
In this study, we performed careful clinical phenotyping to confirm hemophilia A in two distinct Labrador Retriever (LR) pedigrees. Whole-genome sequencing on an affected dog from litter 1 identified a case-specific frameshift deletion variant in F8 predicted to cause a premature stop codon (c.2923_2924del, p.(E975Kfs*8)). This variant was hemizygous in all the affected males from litter 1 (n = 3), while all the unaffected LRs in the pedigree were heterozygous or wild-type (n = 22). Additionally, screened samples from 199 LRs were all found to be wild-type. As a result of this study, a gene test can now be developed to scr...
Source: Animal Genetics - July 13, 2023 Category: Genetics & Stem Cells Authors: Marjo K Hyt önen Sanna Viitanen Sruthi Hundi Jonas Donner Hannes Lohi Maria Kaukonen Source Type: research
A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs
In this study, we performed careful clinical phenotyping to confirm hemophilia A in two distinct Labrador Retriever (LR) pedigrees. Whole-genome sequencing on an affected dog from litter 1 identified a case-specific frameshift deletion variant in F8 predicted to cause a premature stop codon (c.2923_2924del, p.(E975Kfs*8)). This variant was hemizygous in all the affected males from litter 1 (n = 3), while all the unaffected LRs in the pedigree were heterozygous or wild-type (n = 22). Additionally, screened samples from 199 LRs were all found to be wild-type. As a result of this study, a gene test can now be developed to scr...
Source: Animal Genetics - July 13, 2023 Category: Genetics & Stem Cells Authors: Marjo K Hyt önen Sanna Viitanen Sruthi Hundi Jonas Donner Hannes Lohi Maria Kaukonen Source Type: research
A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs
In this study, we performed careful clinical phenotyping to confirm hemophilia A in two distinct Labrador Retriever (LR) pedigrees. Whole-genome sequencing on an affected dog from litter 1 identified a case-specific frameshift deletion variant in F8 predicted to cause a premature stop codon (c.2923_2924del, p.(E975Kfs*8)). This variant was hemizygous in all the affected males from litter 1 (n = 3), while all the unaffected LRs in the pedigree were heterozygous or wild-type (n = 22). Additionally, screened samples from 199 LRs were all found to be wild-type. As a result of this study, a gene test can now be developed to scr...
Source: Animal Genetics - July 13, 2023 Category: Genetics & Stem Cells Authors: Marjo K Hyt önen Sanna Viitanen Sruthi Hundi Jonas Donner Hannes Lohi Maria Kaukonen Source Type: research
