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Chunk #3 — Results

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Differences in SMN1 allele frequencies among ethnic groups within North America.
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Using the observed genotype data and assuming Hardy–Weinberg equilibrium, maximum likelihood estimation was employed to determine frequencies for alleles and allele pairings within all sample groups (tables 2 and 3). These calculations reveal that the expected frequency of alleles with two or more copies of SMN1 in the African American group is 3.4 to 8.4 times more prevalent when compared to the other ethnic groups. The preponderance of the two-copy allele in the African American group also suggests a much higher frequency of individuals with the SMA carrier “2+0” genotype compared to other ancestries.