L773:1460 2083 OR L773:1460 2083 OR L773:0964 6906
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03304naa a2200421 4500 | |
| 001 | oai:DiVA.org:esh-7479 | |
| 003 | SwePub | |
| 008 | 190515s1995 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:1933955 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:esh:diva-74792 URI |
| 024 | 7 | a https://doi.org/10.1093/hmg/4.2.2072 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:19339552 URI |
| 040 | a (SwePub)eshd (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Almqvist, Eu Karolinska Institutet4 aut0 (Swepub:esh)eliwin |
| 245 | 1 0 | a Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes :b insights into the genetic evolution of Huntington disease. |
| 264 | 1 | b Oxford University Press (OUP),c 1995 |
| 338 | a print2 rdacarrier | |
| 520 | a This study addresses genetic factors associated with normal variation of the CAG repeat in the Huntington disease (HD) gene. To achieve this, we have studied patterns of variation of three trinucleotide repeats in the HD gene including the CAG and adjacent CCG repeats as well as a GAG polymorphism at residue 2642 (delta 2642). We have previously demonstrated that variation in the CCG repeat is associated with variation of the CAG repeat length on normal chromosomes. Here we show that differences in the GAG trinucleotide polymorphism at residue 2642 is also significantly correlated with CAG size on normal chromosomes. The B allele which is associated with higher CAG repeat lengths on normal chromosomes is markedly enriched on affected chromosomes. Furthermore, this glutamic acid polymorphism shows significant variation in different ancestries and is absent in chromosomes of Japanese, Black and Chinese descent. Haplotype analysis of both the CCG and delta 2642 polymorphisms have indicated that both are independently associated with differences in CAG length on normal chromosomes. These findings lead to a model for the genetic evolution of new mutations for HD preferentially occurring on normal chromosomes with higher CAG repeat lengths and a CCG repeat length of seven and/or a deletion of the glutamic acid residue at delta 2642. This study also provides additional evidence for genetic contributions to demographic differences in prevalence rates for HD. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Hälsovetenskapx Omvårdnad0 (SwePub)303052 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Health Sciencesx Nursing0 (SwePub)303052 hsv//eng |
| 700 | 1 | a Spence, N4 aut |
| 700 | 1 | a Nichol, K4 aut |
| 700 | 1 | a Andrew, S E4 aut |
| 700 | 1 | a Vesa, J4 aut |
| 700 | 1 | a Peltonen, L4 aut |
| 700 | 1 | a Anvret, M4 aut |
| 700 | 1 | a Goto, J4 aut |
| 700 | 1 | a Kanazawa, I4 aut |
| 700 | 1 | a Goldberg, Y P4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Human Molecular Geneticsd : Oxford University Press (OUP)g 4:2, s. 207-14q 4:2<207-14x 0964-6906x 1460-2083 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:esh:diva-7479 |
| 856 | 4 8 | u https://doi.org/10.1093/hmg/4.2.207 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:1933955 |
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