Polymorphic tetranucleotide repeat site within intron 7 of the β-amyloid precursor protein gene and its lack of association with Alzheimer's disease

Human Genetics

Volumn 103, Issue 1, 1998, Pages 86-89

  Li, Ling ^a   Perry, Rodney ^b   Wu, Jianming ^c   Pham, Dao ^a   Ohman, Tauni ^a   Harrell, Lindy E ^d   Go, Rodney C P ^b   Fukuchi, Ken Ichiro ^a  

^a UNIVERSITY OF ALABAMA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c University of Alabama at Birmingham   (United States)

^d The University of Alabama at Birmingham   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; PROTEINASE INHIBITOR;

ADULT; AGED; ALTERNATIVE RNA SPLICING; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NERVE CELL; NUCLEOTIDE REPEAT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RACE DIFFERENCE;

AFRICAN CONTINENTAL ANCESTRY GROUP; AGE OF ONSET; AGED; ALABAMA; ALLELES; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; BASE SEQUENCE; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; INFANT, NEWBORN; INTRONS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 0031685162     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050788     Document Type: Article

References (15)

1. Beckmann JS, Weber JL (1992) Survey of human and rat microsatellites. Genomics 12:627-631
2. Folstein MF, Folstein SE, McHugh PP (1975) "Mini-mental state," a practical method for grading cognitive stage of patients for the clinician. J Psychiatr Res 12:189-197
3. Goate A, Chartier-Harlin M, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L, Mant R, Newton P, Rooke K, Roques P, Talbot C, Pericak-Vance M, Roses A, Williamson R, Rossor M, Owen M, Hardy J (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349:704-706
4. Hattori M, Tsukahara F, Furuhata Y, Tanahashi H, Hirose M, Saito M, Tsukuni S, Sakaki Y (1997) A novel method for making nested deletions and its application for sequencing of a 300 kb region of human APP locus. Nucleic Acids Res 25:1802-1808
5. Johnson SA, McNeill T, Cordell B, Finch CE (1990) Relation of neuronal APP-75 1/APP-695 mRNA ratio and neuritic plaque density in Alzheimer's disease. Science 248:854-857
6. n repeats on human chromosome 21. Genomics 14:1071-1075
7. Lendon CL, Ashall F, Goate AM (1997) Exploring the etiology of Alzheimer disease using molecular genetics. JAMA 277:825-831
8. Mandel J-L (1997) Breaking the rule of three. Nature 386:767-769
9. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34:939-944
10. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
11. Paulson HL, Fischbeck KH (1996) Trinucleotide repeats in neurogenetic disorders. Annu Rev Neurosci 19:79-107
12. Shibata A, Hattori M, Suda H, Sakaki Y (1996) Identification of cisacting elements involved in an alternative splicing of the amyloid precursor protein (APP) gene. Gene 175:203-208
13. Tanzi RE, McClatchey AI, Lamperti, ED, Villa-Komaroff L, Gusella JF, Neve RL (1988) Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature 331:528-530
14. Yamada T, Goto I, Sakaki Y (1993) Neuron-specific splicing of the Alzheimer amyloid precursor protein gene in a mini-gene system. Biochem Biophys Res Commun 195:442-448
15. Zuliani G, Hobbs HH (1990) A high frequency of length polymorphism in repeated sequence adjacent to Alu sequence. Am J Hum Genet 46:963-969