Highly polymorphic repeat marker within the β-amyloid precursor protein gene

Stefania Zappata; Michael B. Petersen; Ulrich König; Jillian Blaschak; Arvinda Chakravarti; Flora Tassone; Angelo Serra; Stylianos E. Antonarakis; Christina Brahe

doi:10.1007/BF00218922

Highly polymorphic repeat marker within the β-amyloid precursor protein gene

Stefania Zappata, Michael B. Petersen, Ulrich König, Jillian Blaschak, Arvinda Chakravarti, Flora Tassone, Angelo Serra, Stylianos E. Antonarakis, Christina Brahe

Research output: Contribution to journal › Article

3 Scopus citations

Abstract

We have identified a polymorphic compound dinucleotide repeat sequence in intron 1 of the β-amyloid precursor protein (APP) gene on chromosome 21. Using polymerase chain reaction (PCR) amplification of the locus, designated APPivsl, we detected 13 alleles in the CEPH family members (heterozygosity = 0.69). Lod score analysis showed complete linkage of the marker to the loci D21S210 and D21221.

Original language	English (US)
Pages (from-to)	85-86
Number of pages	2
Journal	Human Genetics
Volume	93
Issue number	1
DOIs	https://doi.org/10.1007/BF00218922
State	Published - Jan 1994
Externally published	Yes

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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Zappata, S., Petersen, M. B., König, U., Blaschak, J., Chakravarti, A., Tassone, F., Serra, A., Antonarakis, S. E., & Brahe, C. (1994). Highly polymorphic repeat marker within the β-amyloid precursor protein gene. Human Genetics, 93(1), 85-86. https://doi.org/10.1007/BF00218922

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abstract = "We have identified a polymorphic compound dinucleotide repeat sequence in intron 1 of the β-amyloid precursor protein (APP) gene on chromosome 21. Using polymerase chain reaction (PCR) amplification of the locus, designated APPivsl, we detected 13 alleles in the CEPH family members (heterozygosity = 0.69). Lod score analysis showed complete linkage of the marker to the loci D21S210 and D21221.",

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AU - Zappata, Stefania

AU - Petersen, Michael B.

AU - König, Ulrich

AU - Blaschak, Jillian

AU - Chakravarti, Arvinda

AU - Tassone, Flora

AU - Serra, Angelo

AU - Antonarakis, Stylianos E.

AU - Brahe, Christina

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AB - We have identified a polymorphic compound dinucleotide repeat sequence in intron 1 of the β-amyloid precursor protein (APP) gene on chromosome 21. Using polymerase chain reaction (PCR) amplification of the locus, designated APPivsl, we detected 13 alleles in the CEPH family members (heterozygosity = 0.69). Lod score analysis showed complete linkage of the marker to the loci D21S210 and D21221.

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