The c.64_80del <i>SMIM1</i> allele is segregating in the <scp>H</scp>utterite population

Coghlan, Gail; Zelinski, Teresa

doi:10.1111/trf.13439

Cited by 3 publications

(5 citation statements)

References 9 publications

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“…The Hutterites are not an outbred population, but rather a genetic isolate exhibiting a strong founder effect (Coghlan and Zelinski, 2016). They are also an isolated population due to the communal farming, therefore variations of environmental factors have less impact on individuals’ microbiomes (Davenport et al, 2015; Igartua et al, 2016).…”

Section: Links Between Host Genetic Profile and Individual Gut Microbmentioning

confidence: 99%

Correlations of Host Genetics and Gut Microbiome Composition

Dąbrowska

Witkiewicz

2016

Front. Microbiol.

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The human gut microbiome has a considerable impact on host health. The long list of microbiome-related health disorders raises the question of what in fact determines microbiome composition. In this review we sought to understand how the host itself impacts the structure of the gut microbiota population, specifically by correlations of host genetics and gut microbiome composition. Host genetic profile has been linked to differences in microbiome composition, thus suggesting that host genetics can shape the gut microbiome of the host. However, cause-consequence mechanisms behind these links are still unclear. A survey of the possible mechanisms allowing host genetics to shape microbiota composition in the gut demonstrated the major role of metabolic functions and the immune system. A considerable impact of other factors, such as diet, may outweigh the effects of host genetic background. More studies are necessary for good understanding of the relations between the host genetic profile, gut microbiome composition, and host health. According to the idea of personalized medicine, patient-tailored management of microbiota content remains a fascinating area for further inquiry.

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Section: Links Between Host Genetic Profile and Individual Gut Microbmentioning

confidence: 99%

Correlations of Host Genetics and Gut Microbiome Composition

Dąbrowska

Witkiewicz

2016

Front. Microbiol.

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“…Only three studies in Chinese individuals have reported genotyping methods to screen for Velgenotype, and few studies have reported the sequence of the gene or polymorphisms in the gene in Chinese individuals [13][14][15]. Because of the characteristics of Vel isoimmunization, the high frequency of Vel antigens in the Chinese (higher than 99.99%), and the lack of a monoclonal anti-Vel antibody, screening for the Vel antigen using molecular techniques and sequencing of the SMIM1 gene should be carried out routinely [7,16,18,19].…”

Section: Discussionmentioning

confidence: 99%

“…Commercial kits were used to examine exons 3 and 4 of the SMIM1 gene (Vel blood group sequence kit; Libiotech). Briefly, the PCR tubes contained 36 lL PCR matrix buffer, 0.32 lL Taq polymerase (5U/lL; Promega, USA), 4 lL genomic DNA(concentration: 20-100 ng/lL) and 2 lL primers(10 lM/lL) [16]. The cycling conditions were as follows: 2 min initial denaturation at 96°C; five cycles of 20 s at 96°C and 1 min at 68°C; 10 cycles of 20 s at 96°C, 50 s at 65°C, and 45 s at 72°C; 17 cycles of 20 s at 96°C, 50 s at 62°C, and 45 s at 72°C; and a final 2 min at 72°C.…”

Section: Molecular Analysis Of the Smim1 Genementioning

confidence: 99%

The Polymorphism of SMIM1 Gene in Chinese Dividuals

Wang²,

Zhu³

et al. 2018

Indian J Hematol Blood Transfus

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The SMIM1 gene, which encodes the high-frequency blood group antigen Vel, has not been systematically analyzed at the molecular level in Chinese individuals. To better understand the SMIM1 genetic polymorphism, we assessed mutations among healthy Chinese individuals, patients with red blood cell autoantibodies and hematological disease. A total of 130 patients with hematological disease (case I group), 50 patients with red blood cell autoantibodies (case II group), and 500 healthy controls (control group) were enrolled. Exons 3 and 4 in the SMIM1 gene were sequenced to identify genetic variants or mutations. A polyclonal anti-Vel antibody was used to evaluate the expression of the Vel antigenon red blood cells in patients with novel alleles. The novel alleles of the SMIM1 gene were intron 3 position 193 (TT, CT, CC), 194 (GG, AG), 3 0 untranslated region positions 81 (CC, CA) and 87 (AA, CA). The single nucleotide polymorphism (SNP) frequencies of intron 3 position 193 TT, CT, CC were 13.1, 39.2, 47.7% in case group I, 6.7, 33.3, 60.0% in case group II and 8.5, 35.6, 56.2% in the control group, respectively. Other minor allele frequencies were all greater than 10% and all SNPs in Chinese showed Vel antigen expression on RBC membranes. The allele at intron 3 position 193 was the most frequent mutant allele found in the Chinese population and Vel antigen deficiency may not cause problems in Chinese patients with hematological diseases and RBC autoantibodies.

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“…For example, a mutation causing weak expression of the Vel antigen has been noted in Hutterites (an ethnoreligious community in western Canada with origins in Germany and Eastern Europe). 5 Unique blood group mutations have also been noted in those of Indigenous and French Canadian descent. 6,7 Given the diversity of the population, a robust program is needed to meet the rare blood needs of the country.…”

Section: Introductionmentioning

confidence: 99%

“…Specific mutations have also been identified in various populations within Canada. For example, a mutation causing weak expression of the Vel antigen has been noted in Hutterites (an ethnoreligious community in western Canada with origins in Germany and Eastern Europe) 5 . Unique blood group mutations have also been noted in those of Indigenous and French Canadian descent 6,7 .…”

Section: Introductionmentioning

confidence: 99%

How do I provide rare red cells to patients?

2022

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Background The demand for rare blood is expected to increase in Canada as its population continues to expand through immigration from diverse regions of the world. Material and methods This paper outlines a national approach to providing rare red cells for patients through the Rare Blood Program of Canadian Blood Services (CBS). Data detailing the rare red cell requests and inventory managed by CBS' Rare Blood Program is provided. Results The provision of rare red cells involves multiple considerations such as multidisciplinary communication, serologic/molecular confirmation, donor recruitment, inventory optimization and logistical factors. Conclusion The description of CBS' Rare Blood Program will inform others that seek to create, optimize, or expand programs that facilitate the provision of rare blood. New technologies such as next‐generation sequencing may also affect how rare donors are identified and recruited in the future.

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The c.64_80del SMIM1 allele is segregating in the Hutterite population

Cited by 3 publications

References 9 publications

Correlations of Host Genetics and Gut Microbiome Composition

Correlations of Host Genetics and Gut Microbiome Composition

The Polymorphism of SMIM1 Gene in Chinese Dividuals

How do I provide rare red cells to patients?

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