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Chunk #1 — Results

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Differences in SMN1 allele frequencies among ethnic groups within North America.
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Significant differences in the frequencies of SMN1 genotypes were observed among several ethnicities (table 1). The highest one-copy carrier rate was identified in specimens from the Caucasian group with a frequency of 1 in 37 samples (2.7%). This result agrees closely with those previously reporting on European populations.6 7 The 1.8% carrier frequency detected in the Asian sample group is comparable to the 1.6% and 1.9% that have been reported in Southern Chinese populations.14 20 The African American and Hispanic groups had statistically significant lower one-copy carrier genotypes when compared to Caucasians, at 1 in 90 (1.1%, p = 0.0089) and 1 in 125 (0.8%, p = 0.0007), respectively. These are the lowest SMN1 carrier frequencies reported for any population or ethnic group at this time. For all but the African American group, the two-copy genotype was more than five times more prevalent than the three-copy genotype group. This result is consistent with all previously published data showing the two-copy genotype to be predominant. Surprisingly, the African American population departed significantly from this genotype distribution, revealing similar frequencies for the