Phenotypic and Allelic Frequency of ABO and Rh (D) Blood Group among Whole Blood Donors in a Teaching Hospital of Chhattisgarh

Background: ABO and Rh (D) blood groups are the most important in blood transfusion and are determined genetically. Although these blood groups are common to all humans, there is variation in their allelic frequency based on region and population. This study was performed to determine the allelic frequency of ABO & Rh (D) in the donor population in the Blood Center of Chhattisgarh located in Central India.Place and Duration of Study:It is a cross-sectionalstudy performed in the Department of Transfusion Medicine & Blood Bank of a teaching hospital from July 2021-February 2022.Methodology:Only the accepted whole blood donors were included. ABO & Rh (D) blood grouping was performed by conventional tube technique and their allelic frequency was determined. We studied 4078 whole blood donors out of which 4055 were males and 23 were females. Results:Phenotypic frequency of ABO blood group system was O>B>A>AB. Rh (D) positive was more prevalent than Rh (D) negative. Allele frequency of ABO system was 0.1545 for IA, 0.2351 for IB, and 0.6105 for IO. In Rh system, allele frequency of IDwas 0.8441 and Idwas 0.1559. Conclusion:Phenotypic & allelic frequency of ABO & Rh (D) shows heterogeneous distribution in different parts of the world. Our study showed blood group O & allele IO as the most common.This data is of utmost importance in the planning of transfusion services, especially during a healthcare crisis in low-resource area like ours.

Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia

Abstract Mucopolysaccharidoses are lysosomal storage diseases characterized by the excessive accumulation of glycosaminoglycan sulfate in organs and tissues. To determine the population allelic frequency of the MPS complex variants in a population without clinical and molecular diagnosis of MPS. An observational descriptive study was carried out where the allelic frequency of variants presents in the IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1 genes was determined by means of the sequencing of 320 exomes from patients without a clinical diagnosis of MPS; the results were tabulated, and allelic frequency formulas were used to determine the values associated with each of the genes. 509 alleles associated with the MPS complex were reported, of which 262 have not been previously reported. Genes with the most frequent allelic presence were IDUA, GLB1 and GALNS, involved in MPS I and MPS IV A / B. The total frequencies ranged between 0.00393 (2 alleles) and 0.47937 (248 alleles). These studies make it possible to determine polymorphisms that circulate in the country, present in patients not affected with MPS, allowing to expand the knowledge about the characteristics of the alleles that are present in affected patients.

Variantes del Complejo MPS en población Colombiana / Variants of the MPS Complex in the Colombian population

Introducción: Las Mucopolisacaridosis (MPS) son enfermedades de depósito lisosomal que se caracterizan por la acumulación excesiva de sulfato de Glucosaminoglicanos (GAGs) en órganos y tejidos, debido a la alteración en los genes que codifican para enzimas involucradas en la degradación lisosomal de glucosaminoglicanos. Se reconocen siete tipos distintos de trastornos de MPS (I, II, III, IV, VI, VII y IX) con 11 deficiencias específicas de enzimas lisosomales. El país no tiene datos exactos sobre la carga de la enfermedad, ni datos de frecuencia alélica que permita conocer la presencia de variantes poblacionales y posibles individuos afectados y portadores. Objetivo: Determinar la frecuencia alélica poblacional de las variantes del complejo MPS en una población sin diagnóstico clínico y molecular de esta patología. Materiales y métodos: Estudio descriptivo observacional donde se determinó la frecuencia alélica de variantes presentes en los genes IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, GLB1, ARSB ,GUSB ,HYAL1, asociados a MPS por medio de la secuenciación de 320 exomas completos de pacientes sin diagnóstico clínico de MPS del Suroccidente Colombiano; los resultados fueron tabulados y fueron utilizadas fórmulas de frecuencia alélica para determinar los valores asociados a cada uno de los genes. Resultados: Se reportaron 509 alelos asociadas al complejo MPS, de las cuales 262 no se habían informado previamente. Los genes con presencia alélica más frecuentes fueron IDUA, GLB1 y GALNS, involucrados en MPS I y MPS IV A / B. Las frecuencias totales oscilaron entre 0,00393 (2 alelos) y 0,47937 (248 alelos). Estos estudios nos permiten conocer la frecuencia poblacional de cada una de las variantes asociadas al complejo MPS, lo que facilita la identificación oportuna de posibles pacientes, y portadores, realizar intervenciones oportunas que incluya además asesoramiento genético. Conclusiones: Con el avance en los métodos diagnósticos genómicos es posible ampliar el conocimiento sobre el impacto de presencia de variantes de los genes asociados al complejo MPS en nuestra población, identificación e instauración de programas integrales que nos acerca a la medicina de precisión.

Introduction: Mucopolysaccharidoses (MPS) are lysosomal storage diseases characterized by the excessive accumulation of glycosaminoglycan sulfate (GAGs) in organs and tissues, due to the alteration in the genes that code for enzymes involved in the lysosomal degradation of glycosaminoglycans. Seven different types of MPS disorders (I, II, III, IV, VI, VII, and IX) are recognized with 11 specific lysosomal enzyme deficiencies. Colombia does not have exact data on the burden of the disease, nor data on the allelic frequency that allows knowing the presence of population variants and possible affected individuals and carriers. Objective: To determine the population allelic frequency of the variants of the MPS complex in a population without a clinical and molecular diagnosis of this pathology. Materials and methods: An observational descriptive study was carried out where the allelic frequency of variants present in the IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1 genes associated with MPS was determined by means of the sequencing of 320 exomes from patients without a clinical diagnosis of MPS from the Southwest of Colombia; the results were tabulated and allelic frequency formulas were used to determine the values associated with each of the genes. Results: 509 alleles associated with the MPS complex were reported, of which 262 have not been previously reported. The genes with the most frequent allelic presence were IDUA, GLB1 and GALNS, involved in MPS I and MPS IV A. These studies allow us to know the population frequency of each of the variants associated with the MPS complex, which facilitates the timely identification of possible patients and carriers, and to carry out timely interventions that also include genetic counseling. Conclusions: With the advancement in genomic diagnostic methods, it is possible to expand the knowledge about the impact of the presence of variants of the genes associated with the MPS complex in our population, identification and establishment of comprehensive programs that bring us closer to precision medicine.

Polimorfismos en el gen del transportador de serotonina (SLC6A4) y el trastorno afectivo bipolar en dos centros regionales de salud mental del Eje Cafetero(Colombia) / Polymorphism in the serotonin transporter gene (SLC6A4) and emotional bipolar disorder in two regional mental health centers from the Eje Cafetero (Colombia)

Introducción: Los polimorfismos indel en la región promotora y los polimorfismos de tamaño en el intrón 2 del gen transportador de serotonina se han asociado con el trastorno afectivo bipolar 1 (TAB 1) en diferentes poblaciones. El objetivo fue analizar las frecuencias genotípicas y alélicas en ambas regiones del gen en un estudio de casos y controles en Risaralda y Quindío (Colombia) para encontrar una asociación con TAB 1 y compararlas con estudios similares. Métodos: Se analizaron 133 pacientes y 120 controles. Con PCR se analizaron los polimorfismos indel L y S de la región promotora y los de tamaño (VNTR) STin 2.10 y STin 2.12 del segundo intrón del gen SLC6A4. Resultados: Las frecuencias genotípicas y alélicas en los polimorfismos S y L fueron muy similares en casos y controles. Sin embargo, el genotipo LL se encontró incrementado no significativamente en la población general con TAB 1 (OR=1,89; IC95%= 1,1-3,68) y al separarla por género. Los OR para este genotipo en la oblación general (OR=1,89; IC95%=1,1-3,68) en mujeres (OR=2,22; IC95%=1,04-5,66) y en hombres (OR=1,62; IC95%=0,71-4,39). En los polimorfismos VNTR STin 2.10 y STin2.212 tampoco se observaron diferencias significativas entre las frecuencias genotípicas y alélicas. Conclusiones: No encontramos asociación entre los polimorfismos de las regiones 5-HTTLPR y el intrón 2 del gen transportador de serotonina en los pacientes con TAB 1, ni en la población total, ni al separarla por género. Nuestros resultados son similares a los encontrados en poblaciones caucásicas y difieren de los encontrados en asiáticas y brasileras…

Introduction: The indel polymorphisms in the promoting region and the 2nd intron polymorphisms in the serotonin transporter gene (SLC6A4) have been associated to bipolar disorder 1 (BD1) in several population studies. The objective was to analyze the genotypic and allelic frequencies in both gene regions in a study of cases and controls with individuals from Risaralda and Quindío (Colombia) so as to establish possible associations to BD1, and compare results with previous and similar studies. Methods: 133 patients and 120 controls were studied. L and S indel polymorphisms in the promoting region were analyzed by PCR, together with VNTR STin2.10 and STin 2.12 VNTRs polymorphisms in the 2nd intron of the SLC6A4 gene Results: Genotypic and allelic frequencies for the S and L polymorphisms were similar both in cases and controls. However, the LL genotype was significantly increased both in BD1 population (OR=1.89; CI95%=1.1-3.68), and when discriminated by gender. This particular genotype in general population is OR=2.22; IC95%=1.04-5.66 for women, and OR=1.62; IC 95%=0.71-4.39 for men. No significant genotypic and allelic differences were found for VNTR STin2.10 and STin 2.12. polymorphisms. Conclusions: No association was found between polymorphisms of 5-HTTLPR polymorphisms and the 2nd intron of the serotonin ransporting gene in general patients with BD1, nor when compared by gender. Our results are similar to those reported for Caucasian populations and differ from those of Asian and Brazilian populations…

Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa Rica / Frequency of the allele causing Charcot-Marie-Tooth disease (axonal type with autosomal recessive inheritance) in Palmares, Costa Rica

Frecuency of the allele causing the axonal form of autosomal recessive Charcot-Marie-Tooth in Palmares, Costa Rica. The Charcot-Marie-Tooth disease constitutes is among the most frequent hereditary peripheral neuropathies world-wide. We identified a family from Palmares (Alajuela, Costa Rica) with 18 affected members. Their neuropathy is axonal, with an autosomal recessive pattern of inheritance; the responsible gene is at the 19q13.33 chromosomal region. Later the mutation was identified in gene MED25. We studied the frequency and geographic distribution of the mutant allele. In a random sample of 103 individuals, six were heterozygote and were widely distributed in Palmares. There was no person in homozigote state for the mutant allele. Clinical characteristics do not differ significantly between individuals that are homozygous for the wildtype allele and individuals hetero zygous for the mutation. A 5.83 % of the population is heterozygote and the frequency of the Ala335Val allele is 0.029, six times higher than in a sample of the Costa Rican population. Werecommend a molecular analysis of carriers to detect additional cases in the region. Rev. Biol. Trop. 57 (Suppl.1): 381-387. Epub 2009 November 30.

La enfermedad de Charcot-Marie-Tooth constituye elgrupo de neuropatías periféricas hereditarias más común a nivel mundial. Una familia con 18 afectados del cantón de Palmares (Alajuela, Costa Rica) con una neuropatía de tipo axonal y herencia autosómica recesiva, permitió localizar el gen responsable en la región 19q13.33. Posteriormente se identificó la mutación causante en el gen MED25. El presente estudio determinó la frecuencia del alelo mutante, así como la distribución geográfica de este alelo. En una muestra al azar de 103 individuos se encontraron seis individuos heteroigotas para la mutación, distribuidos por todo el cantón. No se encontró ninguna persona en estado homocigota para este alelo. No hallamos algunacaracterística clínica que difiera significativamente entre los individuos homocigotos silvestres y los heterocigotos para la mutación. El 5.83% de la población es heterocigota y la frecuencia del alelo Ala335Val es de 0.029, seis veces mayor que en una muestra de toda la población costarricense. Por esta razón se recomienda un análisis molecular de portadores con el fin de alertar sobre la posibilidad de aparición de más casos en el cantón.

Genetic Polymorphism Analysis of Nine Short Tandem Repeat Loci in Han Population of Southern China / 中山大学学报(医学科学版)

[Objective] To investigate the genetic polymorphism of nine short tandem repeat (STR) loci in Han population of Southern China.[Methods] The 9 STR loci (D11S2368,D12S391,D13S325,D18S1364,D22-GATA198B05,D6S1043,D2S1772,D7S3048,D8S1132) were amplified with STR＿Typer＿10＿v1 kit for 1619 unrelated individuals of Han population in Southern China.The PCR products were analyzed with 3100 genetic analyzer and GeneMapper ID 3.1v software.The forensic efficiency parameters were calculated by PowerState V12.xls and the Hardy-Weinberg equilibrium was tested with Arlequin 3.11v software.[Results] The genetic polymorphism of 9 STR loci in Han population of Southern China was quite high.The heterozygosities (H) ranged from 0.818 to 0.879.The match probabilities (MP) ranged from 0.031 to 0.063.The powers of discrimination (PD) ranged from 0.937 to 0.970,the probabilities of exclusion (PE) ranged from 0.632 to 0.753,the polymorphism information contents (PIC) ranged from 0.80 to 0.88 and the typical paternity indices (TPI) ranged from 2.74-4.13,respectively.These data were in accord with Hardy-Weinberg equilibrium (P ＞ 0.05).[Conclusion] Nine STR loci are highly polymorphic in Chinese Han population.They are new useful tools for paternity testing,individual identification,and for the research of human genetics and anthropology.

Frequencies of HLA-DRB1 Alleles in Korean Patients with Pemphigus / 대한피부과학회지

BACKGROUND AND OBJECTIVES: Pemphigus is an autoimmune bullous disease of the skin and mucous membranes. There are two major types of pemphigus, namely pemphigus vulgaris(PV) and pemphigus foliaceus(PF) which can be classified by the specificity of the autoantibodies against the epidermal desmosomal antigens in this disease. Like many other autoimmune diseases, pemphigus is also considered to be strongly associated with certain HLA alleles; some alleles can be detected with higher frequencies as compared with those found in ethnically matched populations. At this time, we tried to find out if there were certain HLA class II allele(s) associated significantly with Korean patients of pemphigus. PATIENTS AND METHODS: Thirty patients with pemphigus (fifteen of PV and fifteen of PF), and one hundred healthy Korean controls were enrolled in this study. For the genotyping of HLA class II alleles in DRB1 loci, genomic DNAs prepared from buccal epithelia were amplified by polymerase chain reactions with nucleotide sequence-specific primers. Each allele of thirteen different generic types belonging to the DRB1 loci were used to identify the existence of each allele in both patient and control groups on gel electrophoreses. RESULTS: In PV, there was a significantly increased frequency of HLA-DRB1*01 alleles than from the findings observed in the controls(pc=0.0013, RR:5). In patients with PF, there was a significant degree of association with HLA-DRB1*01(pc=0.00013, RR:5.5) when compared with that in normal controls. However, no allele of negative association with a significantly low frequency in the patient group was detected in both types of the disease. CONCLUSION: It can be suggested that DRB1*01 alleles may be susceptibility genes in Korean patients with PV, and DRB1*01 alleles could contribute to the autoimmune reactivity in patients with PF. This data shows different patterns in the frequency of each DRB1 allele in patient groups compared with those found in patients of other ethnic backgrounds.