The Ashkenazic Jewish Bloom Syndrome Mutation blmAsh Is Present in Non-Jewish Americans of Spanish Ancestry  Nathan A. Ellis, Susan Ciocci, Maria Proytcheva,

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The Ashkenazic Jewish Bloom Syndrome Mutation blmAsh Is Present in Non-Jewish Americans of Spanish Ancestry  Nathan A. Ellis, Susan Ciocci, Maria Proytcheva, David Lennon, Joanna Groden, James German  The American Journal of Human Genetics  Volume 63, Issue 6, Pages 1685-1693 (December 1998) DOI: 10.1086/302167 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Order and physical location of the seven polymorphic markers and one mutation examined (see Straughen et al. 1996). The orientation of the genomic segment relative to the centromere (circle) was determined by analysis of recombinant chromosomes that were detected in BS families (German et al. 1994; Ellis et al. 1995b). The physical distances (in kb) between loci is shown under the line that represents the genomic sequences. The American Journal of Human Genetics 1998 63, 1685-1693DOI: (10.1086/302167) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Haplotypes of 51 Ashkenazic blmAsh chromosomes, 6 non-Ashkenazic blmAsh chromosomes, and 2 Ashkenazic non-blmAsh chromosomes (determined as described in the text). The identification at the left of each chromosome is taken from the Bloom's Syndrome Registry's designation of the person with BS; the parental origin of each chromosome is indicated: pat = paternal, mat = maternal. Reference to all except the most recently accessioned persons can be found in one of the reports from the registry, which have been made serially since 1977 (see German and Passarge 1989). The genetic history of each registered person whose chromosomes are represented here as Ashkenazic indicates that each of his or her chromosomes was transmitted from a parent who was an Ashkenazic Jew. The genetic history of persons whose chromosomes are represented here as non-Ashkenazic indicates that each chromosome was transmitted in this case by a Spanish-speaking Christian person whose families have dwelt for many generations in the southwestern United States, Mexico, or El Salvador. The eight loci (boldface) are arrayed in the order that they assume in the human genome (fig. 1). The alleles present on the founder's haplotype, named across the top, are indicated by the thicker portion of each line; alleles not present on the founder's haplotype are indicated by the thinner portions of each line, and there the allele present on each is indicated. To the right of each haplotype is indicated the D15S127 allele (145 bp or 147 bp) that is present on that chromosome. The American Journal of Human Genetics 1998 63, 1685-1693DOI: (10.1086/302167) Copyright © 1998 The American Society of Human Genetics Terms and Conditions