|
|
|
662 A/G gene variation in human tumor necrosis
factor receptor superfamily, member 9 (TNFRSF9) |
| QU Yanchun1, YANG Ze2, SUN Liang2, JI Linong3 |
| 1.Tianjin Institute of Urology, The Second Hospital of Tianjin Medical University; Beijing Institute of Geriatrics, Beijing Hospital, Ministry of Health; 2.Beijing Institute of Geriatrics, Beijing Hospital, Ministry of Health; 3.Endocrinology Department, The People's Hospital, Beijing University; |
|
|
|
|
Abstract The aim of this paper is to report a new coding variance of the TNFRSF9 gene, a candidate for autoimmune diseases. We found the variation in two families with type 2 diabetes mellitus by D-HPLC mutation screening method and confirmed our results by direct sequencing and PCR-RFLP. Although without changing the amino acid coding, the variance may have an effect on codon usage and play a role in disease development, such as type 2 diabetes mellitus. However, we cannot define the role of this variance because the frequency of the minor allele is low in the Chinese population and no homozygote of the variance was found. More research in multiple populations will be necessary to define the role of this variance.
|
|
Issue Date: 05 September 2008
|
|
| 1 |
Schwarz H, Tuckwell J, Lotz M . A receptor induced by lymphocyte activation (ILA): anew member of the human nerve-growth-factor/tumor-necrosis-factorreceptor family. Gene, 1993, 134(2): 295–298.
doi:10.1016/0378‐1119(93)90110‐O
|
| 2 |
Schwarz H, Blanco F J, von Kempis J, Valbracht J, Lotz M . ILA, a member of the humannerve growth factor/tumor necrosis factor receptor family, regulatesT-lymphocyte proliferation and survival. Blood, 1996, 87(7): 2839–2845
|
| 3 |
Loo D T, Chalupny N J, Bajorath J, Shuford W W, Mittler R S, Aruffo A . Analysis of 4-1BBL and laminin binding to murine 4-1BB,a member of the tumor necrosis factor receptor superfamily, and comparisonwith human 4-1BB. J Biol Chem, 1997, 272(10): 6448–6456.
doi:10.1074/jbc.272.10.6448
|
| 4 |
Schwarz H, Arden K, Lotz M . CD137, a member of the tumor necrosis factor receptorfamily, is located on chromosome 1p36, in a cluster of related genes,and colocalizes with several malignancies. Biochem Biophys Res Commun, 1997, 235(3): 699–703.
doi:10.1006/bbrc.1997.6870
|
| 5 |
Nakamura Y, Kakoki M, Yamakado M . The effect of age on glucose tolerance and plasma insulinlevel in hypertensive and normotensive subjects. Hypertens Res, 1996, 19(Suppl 1): S23–26.
doi:10.1291/hypres.19.SupplementI_S23
|
| 6 |
Valverde D, Riveiro-Alvarez R, Aguirre-Lamban J, Baiget M, Carballo M, Antiñolo G, Millán JM, Garcia Sandoval B, Ayuso C . Spectrumof the ABCA4 gene mutations implicated in severe retinopathies inSpanish patients. Invest Ophthalmol VisSci, 2007, 48(3): 985–990.
doi:10.1167/iovs.06‐0307
|
| 7 |
Sénéchal A, Humbert G, Surget M O, Bazalgette C, Bazalgette C, Arnaud B, Arndt C, Laurent E, Brabet P, Hamel C P . Screening genes of the retinoidmetabolism: novel LRAT mutation in leber congenital amaurosis. Am J Ophthalmol, 2006, 142(4): 702–704.
doi:10.1016/j.ajo.2006.04.057
|
| 8 |
Sellner L N, Edkins E, Smith N . Screening for RB1 mutations in tumor tissue using denaturinghigh performance liquid chromatography, multiplex ligation-dependentprobe amplification, and loss of heterozygosity analysis. Pediatr Dev Pathol, 2006, 9(1): 31–37.
doi:10.2350/07‐05‐0078.1
|
|
Viewed |
|
|
|
Full text
|
|
|
|
|
Abstract
|
|
|
|
|
Cited |
|
|
|
|
| |
Shared |
|
|
|
|
| |
Discussed |
|
|
|
|
