Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada
The incidence of Severe Combined Immunodeficiency (SCID) in Manitoba, (1/15,000), is at least three to four times higher than the national average and that reported from other jurisdictions. It is overrepresented in two population groups: Mennonites (ZAP70 founder mutation) and First Nations of Nort...
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| Format: | Article |
| Language: | English |
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MDPI AG
2018-06-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | http://www.mdpi.com/2409-515X/4/2/19 |
| _version_ | 1819095632290250752 |
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| author | J. Robert Thompson Cheryl R. Greenberg Andrew Dick Olga Jilkina Luvinia Kwan Tamar S. Rubin Teresa Zelinski Marlis L. Schroeder Paul Van Caeseele |
| author_facet | J. Robert Thompson Cheryl R. Greenberg Andrew Dick Olga Jilkina Luvinia Kwan Tamar S. Rubin Teresa Zelinski Marlis L. Schroeder Paul Van Caeseele |
| author_sort | J. Robert Thompson |
| collection | DOAJ |
| description | The incidence of Severe Combined Immunodeficiency (SCID) in Manitoba, (1/15,000), is at least three to four times higher than the national average and that reported from other jurisdictions. It is overrepresented in two population groups: Mennonites (ZAP70 founder mutation) and First Nations of Northern Cree ancestry (IKBKB founder mutation). We have previously demonstrated that in these two populations the most widely utilized T-cell receptor excision circle (TREC) assay is an ineffective newborn screening test to detect SCID as these patients have normal numbers of mature T-cells. We have developed a semi-automated, closed tube, high resolution DNA melting procedure to simultaneously genotype both of these mutations from the same newborn blood spot DNA extract used for the TREC assay. Parallel analysis of all newborn screening specimens utilizing both TREC analysis and the high-resolution DNA procedure should provide as complete ascertainment as possible of SCID in the Manitoba population. |
| first_indexed | 2024-12-21T23:46:23Z |
| format | Article |
| id | doaj.art-e18714489c3a47e58cce9913e4b04e5e |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-12-21T23:46:23Z |
| publishDate | 2018-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-e18714489c3a47e58cce9913e4b04e5e2022-12-21T18:46:05ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2018-06-01421910.3390/ijns4020019ijns4020019Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, CanadaJ. Robert Thompson0Cheryl R. Greenberg1Andrew Dick2Olga Jilkina3Luvinia Kwan4Tamar S. Rubin5Teresa Zelinski6Marlis L. Schroeder7Paul Van Caeseele8Cadham Provincial Laboratory, Winnipeg, MB R3E 3J7, CanadaDepartment of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, 546-715 McDermot Ave, Winnipeg, MB R3E 3R4, CanadaCadham Provincial Laboratory, Winnipeg, MB R3E 3J7, CanadaCancerCare Manitoba, Winnipeg, MB R3E 0V9, CanadaDepartment of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, 546-715 McDermot Ave, Winnipeg, MB R3E 3R4, CanadaDepartment of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, 546-715 McDermot Ave, Winnipeg, MB R3E 3R4, CanadaDepartment of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, 546-715 McDermot Ave, Winnipeg, MB R3E 3R4, CanadaDepartment of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, 546-715 McDermot Ave, Winnipeg, MB R3E 3R4, CanadaCadham Provincial Laboratory, Winnipeg, MB R3E 3J7, CanadaThe incidence of Severe Combined Immunodeficiency (SCID) in Manitoba, (1/15,000), is at least three to four times higher than the national average and that reported from other jurisdictions. It is overrepresented in two population groups: Mennonites (ZAP70 founder mutation) and First Nations of Northern Cree ancestry (IKBKB founder mutation). We have previously demonstrated that in these two populations the most widely utilized T-cell receptor excision circle (TREC) assay is an ineffective newborn screening test to detect SCID as these patients have normal numbers of mature T-cells. We have developed a semi-automated, closed tube, high resolution DNA melting procedure to simultaneously genotype both of these mutations from the same newborn blood spot DNA extract used for the TREC assay. Parallel analysis of all newborn screening specimens utilizing both TREC analysis and the high-resolution DNA procedure should provide as complete ascertainment as possible of SCID in the Manitoba population.http://www.mdpi.com/2409-515X/4/2/19newborn screeningSCIDTREC |
| spellingShingle | J. Robert Thompson Cheryl R. Greenberg Andrew Dick Olga Jilkina Luvinia Kwan Tamar S. Rubin Teresa Zelinski Marlis L. Schroeder Paul Van Caeseele Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada International Journal of Neonatal Screening newborn screening SCID TREC |
| title | Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada |
| title_full | Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada |
| title_fullStr | Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada |
| title_full_unstemmed | Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada |
| title_short | Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada |
| title_sort | development of a population based newborn screening method for severe combined immunodeficiency in manitoba canada |
| topic | newborn screening SCID TREC |
| url | http://www.mdpi.com/2409-515X/4/2/19 |
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