The Western Australian Family Connections Genealogical Project: Detection of familial occurrences of single gene and chromosomal disorders
Aim: To investigate using a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families. Method: Hospital admissions for single gene and chromosome disorders recorded during 2000–2006 were identified from the WA Hospital Morbidity Data...
| Main Authors: | , , , , , , |
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| Format: | Journal Article |
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Mary Ann Liebert, Inc. Publishers
2014
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| Online Access: | http://hdl.handle.net/20.500.11937/33584 |
| _version_ | 1848753987477569536 |
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| author | Brameld, Kate Dye, Danielle Maxwell, Susannah Brisbane, Joanna Glasson, Emma Goldblatt, Jack O'Leary, Peter |
| author_facet | Brameld, Kate Dye, Danielle Maxwell, Susannah Brisbane, Joanna Glasson, Emma Goldblatt, Jack O'Leary, Peter |
| author_sort | Brameld, Kate |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Aim: To investigate using a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families. Method: Hospital admissions for single gene and chromosome disorders recorded during 2000–2006 were identified from the WA Hospital Morbidity Data System. The proportion of these conditions occurring in family groups was then identified using genealogical links created through the WA Family Connections Genealogical Project. Results: There were 216 family clusters among 11,303 people who were recorded as having a genetic or chromosomal disorder on their hospital admission record. The most common single gene conditions found to occur in multiple family members included blood clotting disorders such as Factor VIII deficiency and Von Willebrand’s disease, followed by cystic fibrosis, myotonic dystrophies, neurofibromatosis, tuberous sclerosis, and osteogenesis imperfecta. Discussion: Single gene disorders most commonly occurring in multiple family members have been identified using the WA Family Connections Genealogical Project. These disorders reflect the most common single gene disorders requiring hospital admission, but which are not fatal before reproductive age and do not result in a loss of fertility. They are also restricted to disorders with earlier onset, as the WA Family Connections Genealogical Project currently covers 2–3 of the most recent generations. This study demonstrates the utility of record linkage genealogies to identify kindred with genetic disorders, offering a rich resource of information for focused genetic epidemiological research. |
| first_indexed | 2025-11-14T08:33:15Z |
| format | Journal Article |
| id | curtin-20.500.11937-33584 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T08:33:15Z |
| publishDate | 2014 |
| publisher | Mary Ann Liebert, Inc. Publishers |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-335842017-09-13T15:30:24Z The Western Australian Family Connections Genealogical Project: Detection of familial occurrences of single gene and chromosomal disorders Brameld, Kate Dye, Danielle Maxwell, Susannah Brisbane, Joanna Glasson, Emma Goldblatt, Jack O'Leary, Peter tuberous sclerosis cystic fibrosis osteogenesis imperfecta WA Hospital Morbidity Data System myotonic dystrophies Von Willebrand’s disease Factor VIII deficiency neurofibromatosis single gene WA Family Connections Genealogical Project chromosome disorders Aim: To investigate using a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families. Method: Hospital admissions for single gene and chromosome disorders recorded during 2000–2006 were identified from the WA Hospital Morbidity Data System. The proportion of these conditions occurring in family groups was then identified using genealogical links created through the WA Family Connections Genealogical Project. Results: There were 216 family clusters among 11,303 people who were recorded as having a genetic or chromosomal disorder on their hospital admission record. The most common single gene conditions found to occur in multiple family members included blood clotting disorders such as Factor VIII deficiency and Von Willebrand’s disease, followed by cystic fibrosis, myotonic dystrophies, neurofibromatosis, tuberous sclerosis, and osteogenesis imperfecta. Discussion: Single gene disorders most commonly occurring in multiple family members have been identified using the WA Family Connections Genealogical Project. These disorders reflect the most common single gene disorders requiring hospital admission, but which are not fatal before reproductive age and do not result in a loss of fertility. They are also restricted to disorders with earlier onset, as the WA Family Connections Genealogical Project currently covers 2–3 of the most recent generations. This study demonstrates the utility of record linkage genealogies to identify kindred with genetic disorders, offering a rich resource of information for focused genetic epidemiological research. 2014 Journal Article http://hdl.handle.net/20.500.11937/33584 10.1089/gtmb.2013.0254 Mary Ann Liebert, Inc. Publishers fulltext |
| spellingShingle | tuberous sclerosis cystic fibrosis osteogenesis imperfecta WA Hospital Morbidity Data System myotonic dystrophies Von Willebrand’s disease Factor VIII deficiency neurofibromatosis single gene WA Family Connections Genealogical Project chromosome disorders Brameld, Kate Dye, Danielle Maxwell, Susannah Brisbane, Joanna Glasson, Emma Goldblatt, Jack O'Leary, Peter The Western Australian Family Connections Genealogical Project: Detection of familial occurrences of single gene and chromosomal disorders |
| title | The Western Australian Family Connections Genealogical Project: Detection of familial occurrences of single gene and chromosomal disorders |
| title_full | The Western Australian Family Connections Genealogical Project: Detection of familial occurrences of single gene and chromosomal disorders |
| title_fullStr | The Western Australian Family Connections Genealogical Project: Detection of familial occurrences of single gene and chromosomal disorders |
| title_full_unstemmed | The Western Australian Family Connections Genealogical Project: Detection of familial occurrences of single gene and chromosomal disorders |
| title_short | The Western Australian Family Connections Genealogical Project: Detection of familial occurrences of single gene and chromosomal disorders |
| title_sort | western australian family connections genealogical project: detection of familial occurrences of single gene and chromosomal disorders |
| topic | tuberous sclerosis cystic fibrosis osteogenesis imperfecta WA Hospital Morbidity Data System myotonic dystrophies Von Willebrand’s disease Factor VIII deficiency neurofibromatosis single gene WA Family Connections Genealogical Project chromosome disorders |
| url | http://hdl.handle.net/20.500.11937/33584 |