Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR
Objective: To compare in detail the severity of illness among patients carrying the variant in exon 1-14 and ORF15 of retinitis pigmentosa GTPase regulator (RPGR).
Methods: Systematic generation sequencing analysis of the data, Sanger sequencing validation and segregation analysis used to identify variants of a pathogen. detailed eye examination, including Electroretinograms, fundus photography, fundus autofluorescence and optical coherence tomography performed. statistical analysis, including adjustment for age and comparison, is based on the level of cross-sectional study to compare the severity of disease between the two groups RPGR variants variants. Results: Sixty-two variants identified in RPGR in 86 patients from 77 unrelated families. Twenty-nine (37.7%) have the variant in RPGR-exons 1-14 (group 1) and 48 (62.3%) in RPGR-ORF15 (group 2).
Eighty-four patients were diagnosed with X-linked retinitis pigmentosa and only two patients with cone-rod dystrophy. LogMAR visual acuity increased by 0,035 and 0,022 each year on average in group 1 and group 2, respectively. Group 2 patients had visual acuity better with logMAR average difference 0.4378, significant after adjustment for age (P <0.01). Good value log (wide zone ellipsoid) or central retinal thickness was significantly correlated with a variant of the grouping after considering the effect of the variable age (P = 0.56 and 0.40, respectively). ball refractive errors did not differ significantly between the two groups of variants (P = 0.17).
Autofluorescence patterns including ring hyperfluorescent in the posterior pole, spread hyperfluorescence in the macular region, and autofluorescence macular fovea dark with or without hyperfluorescence. Age and the proportion of fundus autofluorescence patterns between the two groups of variants were significantly different (P <0.01).
Conclusion: Patients with a variant in exon 1-14 maintained visual acuity less than patients with ORF15 variants and deteriorate faster. However, the width of the zone ellipsoid, central retinal thickness and refraction were comparable between the two groups. Autofluorescence patterns and variants associated with age grouping.
Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR
Genotypic and phenotypic characteristics in Chinese patients with Bardet-Biedl syndrome
Objective: To investigate the complex and different phenotypes in seven Chinese patients diagnosed with Bardet-Biedl syndrome (BBS) and carrying pathogenic mutations.
Methods: Seventy-related BBS patients enrolled. medical history and their eyes examined, and a comprehensive clinical examination, such as fundus photography, optical coherence tomography, and medical imaging, performed. A panel specific enrichment hereditary eye disease based on exome-capture technology used to gather and strengthen the protein-coding regions of the genes targeted 441 hereditary eye disease, followed by high-throughput sequencing using Illumina HiSeq platform.
Results: All patients exhibited a major clinical phenotype BBS. BBS seven mutations found in five patients (BBS7 in two patients, BBS10 in two patients, BBS12 in one patient), for level detection of 71% (5/7). New rate for mutations known BBS is 5: 2.
Description: The antibody HEB-20 reacts with human blood group B. The specificity of the antibody HEB-20 was confirmed by comparison of specificity and reactivity to standard reagent using >5.000 samples of blood. The mAb HEB-20 shows specific staining of erythrocytes and vascular epithelium of blood group B controls and no staining in group A controls. This mAb is applicable for tissue staining in tumor patients with blood groups B and AB. Blood group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: The antibody HEB-20 reacts with human blood group B. The specificity of the antibody HEB-20 was confirmed by comparison of specificity and reactivity to standard reagent using >5.000 samples of blood. The mAb HEB-20 shows specific staining of erythrocytes and vascular epithelium of blood group B controls and no staining in group A controls. This mAb is applicable for tissue staining in tumor patients with blood groups B and AB. Blood group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: The antibody HEB-20 reacts with human blood group B. The specificity of the antibody HEB-20 was confirmed by comparison of specificity and reactivity to standard reagent using >5.000 samples of blood. The mAb HEB-20 shows specific staining of erythrocytes and vascular epithelium of blood group B controls and no staining in group A controls. This mAb is applicable for tissue staining in tumor patients with blood groups B and AB. Blood group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: This antibody recognizes human blood group A (monofucosyl and difucosyl A antigens with chain types 1, 2, 3, 4, 5, 6) and Forssmann antigen. It is also reactive with the immuno-dominant A trisaccharide. Blood group antigen expression in human colon cancer was studied by means of two monoclonal antibodies of broad anti-A (HE-14) and anti-type 3 and type 4 chain-based A and H (HE-10) specificity. These antigens were proved to re-appear in tumors of the distal colon, the HE-10 antibody reacting more frequently (9 out of 12 samples) than HE-14 (5 out of 12 samples) and frequently with supra-nuclear staining of the cytoplasm probably in those places of the Golgi apparatus where carbohydrate antigens are synthesized. This staining pattern is characteristic of HE-10 in normal colonic mucosa as well. With HE-14, staining was often absent in less differentiated tumors, while HE-10 did react in such tumors. In some cases, these two antibodies gave different staining patterns in parallel sections from the same tissue sample, primarily at the cellular level. Three out of 12 cases showed blood group antigen expression in the mucosa of the distal colon adjacent to the tumor only when HE-10 mAb was used.
Description: This antibody recognizes human blood group A (monofucosyl and difucosyl A antigens with chain types 1, 2, 3, 4, 5, 6) and Forssmann antigen. It is also reactive with the immuno-dominant A trisaccharide. Blood group antigen expression in human colon cancer was studied by means of two monoclonal antibodies of broad anti-A (HE-14) and anti-type 3 and type 4 chain-based A and H (HE-10) specificity. These antigens were proved to re-appear in tumors of the distal colon, the HE-10 antibody reacting more frequently (9 out of 12 samples) than HE-14 (5 out of 12 samples) and frequently with supra-nuclear staining of the cytoplasm probably in those places of the Golgi apparatus where carbohydrate antigens are synthesized. This staining pattern is characteristic of HE-10 in normal colonic mucosa as well. With HE-14, staining was often absent in less differentiated tumors, while HE-10 did react in such tumors. In some cases, these two antibodies gave different staining patterns in parallel sections from the same tissue sample, primarily at the cellular level. Three out of 12 cases showed blood group antigen expression in the mucosa of the distal colon adjacent to the tumor only when HE-10 mAb was used.
Description: This antibody recognizes human blood group A (monofucosyl and difucosyl A antigens with chain types 1, 2, 3, 4, 5, 6) and Forssmann antigen. It is also reactive with the immuno-dominant A trisaccharide. Blood group antigen expression in human colon cancer was studied by means of two monoclonal antibodies of broad anti-A (HE-14) and anti-type 3 and type 4 chain-based A and H (HE-10) specificity. These antigens were proved to re-appear in tumors of the distal colon, the HE-10 antibody reacting more frequently (9 out of 12 samples) than HE-14 (5 out of 12 samples) and frequently with supra-nuclear staining of the cytoplasm probably in those places of the Golgi apparatus where carbohydrate antigens are synthesized. This staining pattern is characteristic of HE-10 in normal colonic mucosa as well. With HE-14, staining was often absent in less differentiated tumors, while HE-10 did react in such tumors. In some cases, these two antibodies gave different staining patterns in parallel sections from the same tissue sample, primarily at the cellular level. Three out of 12 cases showed blood group antigen expression in the mucosa of the distal colon adjacent to the tumor only when HE-10 mAb was used.
Description: This antibody recognizes human blood group A (monofucosyl and difucosyl A antigens with chain types 1, 2, 3, 4, 5, 6) and Forssmann antigen. Blood-group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin-type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter-related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: This antibody recognizes human blood group A (monofucosyl and difucosyl A antigens with chain types 1, 2, 3, 4, 5, 6) and Forssmann antigen. Blood-group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin-type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter-related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: This antibody recognizes human blood group A (monofucosyl and difucosyl A antigens with chain types 1, 2, 3, 4, 5, 6) and Forssmann antigen. Blood-group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin-type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter-related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: This mAb preferably reacts with determinants of chain A and H type 3 (Gal1-3GalNAc-R) and 4 (Gal1-3GalNAc-R), but not with type 1 and 2 chain structures. It is not reactive with immuno-dominant A trisaccharide. This mAb is applicable for tissue staining in tumor patients with blood groups A and AB. It shows a highly heterogeneous reactivity in human colon tumor tissue and adjacent mucosa. Blood-group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin-type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter-related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: This mAb preferably reacts with determinants of chain A and H type 3 (Gal1-3GalNAc-R) and 4 (Gal1-3GalNAc-R), but not with type 1 and 2 chain structures. It is not reactive with immuno-dominant A trisaccharide. This mAb is applicable for tissue staining in tumor patients with blood groups A and AB. It shows a highly heterogeneous reactivity in human colon tumor tissue and adjacent mucosa. Blood-group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin-type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter-related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: This mAb preferably reacts with determinants of chain A and H type 3 (Gal1-3GalNAc-R) and 4 (Gal1-3GalNAc-R), but not with type 1 and 2 chain structures. It is not reactive with immuno-dominant A trisaccharide. This mAb is applicable for tissue staining in tumor patients with blood groups A and AB. It shows a highly heterogeneous reactivity in human colon tumor tissue and adjacent mucosa. Blood-group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin-type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter-related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: This mAb preferably reacts with determinants of chain A and H type 3 (Gal1-3GalNAc-R) and 4 (Gal1-3GalNAc-R), but not with type 1 and 2 chain structures. It is not reactive with immuno-dominant A trisaccharide. This mAb is applicable for tissue staining in tumor patients with blood groups A and AB. It shows a highly heterogeneous reactivity in human colon tumor tissue and adjacent mucosa. Blood-group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin-type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter-related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: This mAb preferably reacts with determinants of chain A and H type 3 (Gal1-3GalNAc-R) and 4 (Gal1-3GalNAc-R), but not with type 1 and 2 chain structures. It is not reactive with immuno-dominant A trisaccharide. This mAb is applicable for tissue staining in tumor patients with blood groups A and AB. It shows a highly heterogeneous reactivity in human colon tumor tissue and adjacent mucosa. Blood-group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin-type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter-related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: This mAb preferably reacts with determinants of chain A and H type 3 (Gal1-3GalNAc-R) and 4 (Gal1-3GalNAc-R), but not with type 1 and 2 chain structures. It is not reactive with immuno-dominant A trisaccharide. This mAb is applicable for tissue staining in tumor patients with blood groups A and AB. It shows a highly heterogeneous reactivity in human colon tumor tissue and adjacent mucosa. Blood-group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin-type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter-related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: This mAb preferably reacts with determinants of chain A and H type 3 (Gal1-3GalNAc-R) and 4 (Gal1-3GalNAc-R), but not with type 1 and 2 chain structures. It is not reactive with immuno-dominant A trisaccharide. This mAb is applicable for tissue staining in tumor patients with blood groups A and AB. It shows a highly heterogeneous reactivity in human colon tumor tissue and adjacent mucosa. Blood-group antigens are generally defined as molecules formed by sequential addition of saccharides to the carbohydrate side chains of lipids and proteins detected on erythrocytes and certain epithelial cells. The A, B and H antigens are reported to undergo modulation during malignant cellular transformation. Blood group related antigens represent a group of carbohydrate determinants carried on both glycolipids and glycoproteins. They are usually mucin-type, and are detected on erythrocytes, certain epithelial cells, and in secretions of certain individuals. Sixteen genetically and biosynthetically distinct but inter-related specificities belong to this group of antigens, including A, B, H, Lewis A, Lewis B, Lewis X, Lewis Y, and precursor type 1 chain antigens.
Description: A Monoclonal antibody against Human Blood Group Antigen Lewis B. The antibodies are raised in Mouse and are from clone SPM194. This antibody is applicable in IHC, IF
Description: Primary antibody against Blood Group Antigen A (CD173)(33C13), CF543 conjugate, Concentration: 0.1mg/mL
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Conclusion: This study shows the spectrum of phenotypic and genotypic BBS patients from China, and the findings underscore the importance of obtaining a comprehensive clinical observations and molecular analyzes to ciliopathies.
