التفاصيل البيبلوغرافية
| العنوان: |
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease |
| المؤلفون: |
Kandt, RS, Haines, JL, Smith, M, Northrup, H, Gardner, RJM, Short, MP, Dumars, K, Roach, ES, Steingold, S, Wall, S, Blanton, SH, Flodman, P, Kwiatkowski, DJ, Jewell, A, Weber, JL, Roses, AD, Pericak-Vance, MA |
| المصدر: |
Nature Genetics, vol 2, iss 1 |
| بيانات النشر: |
eScholarship, University of California |
| سنة النشر: |
1992 |
| المجموعة: |
University of California: eScholarship |
| مصطلحات موضوعية: |
Biological Sciences, Genetics, Polycystic Kidney Disease, Brain Disorders, Rare Diseases, Tuberous Sclerosis, Kidney Disease, Alleles, Chromosomes, Human, Pair 16, Female, Genes, Dominant, Genetic Linkage, Genetic Markers, Humans, Lod Score, Male, Pedigree, Polycystic Kidney, Autosomal Dominant, allele, article, chromosome 16, dominant gene, genetic marker, kidney polycystic disease, Linkage, Support |
| جغرافية الموضوع: |
37 - 41 |
| الوصف: |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of unknown aetiology that affects numerous body systems including skin, brain and kidneys. Some TSC has been linked to chromosome 9, additional TSC genes on chromosomes 11 and 12 have been proposed, but the majority of TSC families remain unlinked. Using TSC families in which data had excluded linkage to chromosome 9, we failed to detect linkage with loci on chromosomes 11, 12 and others. One marker examined was D16S283, the closest locus on the proximal side of the polycystic kidney disease type 1 (PKD1) gene. Linkage between TSC and D16S283 demonstrated a lod score of 9.50 at theta = 0.02 with one family independently presenting a lod score of 4.44 at theta = 0.05. These data reveal an important TSC locus near the region of PKD1 on chromosome 16p13. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
unknown |
| العلاقة: |
qt2sd6j0xc; https://escholarship.org/uc/item/2sd6j0xcTest |
| الإتاحة: |
https://escholarship.org/uc/item/2sd6j0xcTest |
| حقوق: |
CC-BY |
| رقم الانضمام: |
edsbas.C637C9D4 |
| قاعدة البيانات: |
BASE |
