Thompson, J.R.; Greenberg, C.R.; Dick, A.; Jilkina, O.; Kwan, L.; Rubin, T.S.; Zelinski, T.; Schroeder, M.L.; Van Caeseele, P. Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada. Int. J. Neonatal Screen.2018, 4, 19.
Thompson, J.R.; Greenberg, C.R.; Dick, A.; Jilkina, O.; Kwan, L.; Rubin, T.S.; Zelinski, T.; Schroeder, M.L.; Van Caeseele, P. Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada. Int. J. Neonatal Screen. 2018, 4, 19.
Thompson, J.R.; Greenberg, C.R.; Dick, A.; Jilkina, O.; Kwan, L.; Rubin, T.S.; Zelinski, T.; Schroeder, M.L.; Van Caeseele, P. Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada. Int. J. Neonatal Screen.2018, 4, 19.
Thompson, J.R.; Greenberg, C.R.; Dick, A.; Jilkina, O.; Kwan, L.; Rubin, T.S.; Zelinski, T.; Schroeder, M.L.; Van Caeseele, P. Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada. Int. J. Neonatal Screen. 2018, 4, 19.
Abstract
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.
Keywords
newborn screening; SCID; TREC
Subject
Medicine and Pharmacology, Pediatrics, Perinatology and Child Health
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
