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On the basis of HapMap comparative sequence studies (http://www.hapmap.org/index.html.en), p.N314D is now considered a common variant or polymorphism (16) with an allele frequency of ∼11% in European populations (CEPH, or Centre d'Etude du Polymorphisme Humain) and lower frequencies in other populations, for a 'pan-ethnic' frequency near 8% (4).
Large-scale studies of GALT alleles tested for the presence or absence of the p.D314 and p.L218 TTA) sequence variants estimated the pan-ethnic frequencies of D1 and D2 alleles at 2.7 and 5.1%, respectively (4).
For purposes of genetic counseling within the setting of population-based carrier screening, pan-ethnic carrier frequency (1/54) and carrier detection rate (91%) data are particularly useful when ethnicity is unknown or reflects admixture.
The calculated pan-ethnic carrier frequency of 1/54 (Table 3) is consistent with the frequency of 1/40 1/60 frequently cited in the literature.
The estimated pan-ethnic disease frequency, (a+ d), derived from our carrier frequency data (1/11 000, Table 2) is consistent with the reported prevalence estimate of 1/10 000 reported for clinically typical SMA derived from larger population studies.
Subsequently, studies from around the world including Australia, Korea, Taiwan, Israel, China and the United States have called for screening individuals without a family history of SMA for carrier status, citing disease severity and a high pan-ethnic carrier frequency.
Although possible explanations for the earlier discrepancies have been proposed, our present study is the first to report a pan-ethnic carrier frequency that is most consistent with the reported incidence of SMA.
Although the general problem of stratification, differential ethnic allele frequencies, has been successfully addressed in our cohort by the use of genomic components or linear mixed models, the ethnic differences in patterns of correlation between the underlying casual variant and the surrounding SNPs which are under study (LD), can still induce to false-negative findings [ 41].
In a goat population of the Vietnamese province of Ha Giang, Berthouly et al.[ 9] have measured the connectivity between farmers using least-cost path analysis in which distances between populations are expressed by differences in terms of altitude, ethnic group frequencies and probability of animal exchanges by farmers.
There were no ethnic differences in frequency of milk intake.
There were no significant ethnic diffenences in frequency of PI use or in fasting plasma levels of lipids, adiponectin, hsCRP, leptin, and free fatty acids.
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