HLA class II histocompatibility antigen, DQ alpha 1 chain
Variations at the HLA-DQA1 locus are responsible for autoimmune diseases such as diabetes mellitus type 1 and membranous nephropathy.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
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37. |
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38. |
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39. |
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40. |
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41. |
None () Molecular cloning of Ancient Egyptian mummy DNA.
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42. |
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43. |
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44. |
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45. |
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46. |
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47. |
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48. |
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49. |
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50. |
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51. |
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52. |
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53. |
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54. |
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55. |
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56. |
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57. |
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58. |
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59. |
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60. |
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61. |
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62. |
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63. |
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64. |
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65. |
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66. |
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67. |
None (1975) Mediterranean macrothrombocytopenia.
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68. |
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69. |
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70. |
Nguyen LB et al. (1990) A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis.
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71. |
Beaty TH et al. (1986) Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia.
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72. |
Salen G et al. (1985) Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis.
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73. |
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74. |
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77. |
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78. |
None (1980) Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis.
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79. |
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80. |
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81. |
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82. |
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83. |
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84. |
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85. |
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90. |
van den Ouweland JM et al. (1992) Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.
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91. |
Ballinger SW et al. (1992) Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion.
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92. |
Reardon W et al. (1992) Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.
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93. |
Alcolado JC et al. (1991) Importance of maternal history of non-insulin dependent diabetic patients.
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94. |
Sue CM et al. (1993) Mitochondrial gene mutations and diabetes mellitus.
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95. |
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96. |
Schulz JB et al. (1993) Mitochondrial gene mutations and diabetes mellitus.
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97. |
Velho G et al. (1996) Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation.
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98. |
't Hart LM et al. (1996) Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging.
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99. |
Vialettes BH et al. (1997) Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.
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100. |
Kameoka K et al. (1998) Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes.
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101. |
Martin Negrier ML et al. (1998) Partial triplication of mtDNA in maternally transmitted diabetes mellitus and deafness.
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102. |
Chinnery PF et al. (1999) Nonrandom tissue distribution of mutant mtDNA.
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103. |
Guillausseau PJ et al. (2001) Maternally inherited diabetes and deafness: a multicenter study.
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104. |
None (2001) Mitochondrial DNA mutations and diabetes: another step toward individualized medicine.
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105. |
Ogun O et al. (2012) Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy.
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106. |
OMIM.ORG article
Omim 146880
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107. |
Orphanet article
Orphanet ID 138728
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108. |
NCBI article
NCBI 3117
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109. |
Wikipedia article
Wikipedia EN (Major_histocompatibility_complex,_class_II,_DQ_alpha_1)
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Update: Aug. 14, 2020