The present study focuses on the genetic history of the Quechua-Lamistas, inhabitants of the Lamas Province in the San Martin Department, Peru, who speak a peculiar dialect of the Quechua language related to the Ecuadorian Quichua. It has been suggested that different pre-Columbian ethnic groups from the Peruvian Amazonia, like the Motilones or “shaven heads”, assimilated the Quechua language and then formed the current native population of Lamas. However, many Quechua-Lamistas claim to be direct descendants of the Chankas, a famous pre-Columbian indigenous group that escaped from the Inca rule in the Andes. To investigate the Quechua-Lamistas and Chankas’ ancestries, we compared uniparental genetic profiles (17 STRs of Y-chromosome Q-M3 and complete mtDNA control region haplotypes) among autochthonous Amazonian and Andean populations from Peru, Bolivia and Ecuador. The phylogeogra...

The Altiplano region of the South American Andes is marked by an inhospitable climate to which the autochthonous human populations adapted and then developed great ancient civilizations, such as the Tiwanaku culture and the Inca Empire. Since pre-Columbian times, different rulers established themselves around the Titicaca and Poopo Lakes. By the time of the arrival of Spaniards, Aymara and Quechua languages were predominant on the Altiplano under the rule of the Incas, although the occurrence of other spoken languages, such as Puquina and Uruquilla, suggests the existence of different ethnic groups in this region. In this study, we focused on the pre-Columbian history of the autochthonous Altiplano populations, particularly the Uros ethnic group, which claims to directly descend from the first settlers of the Andes, and some linguists suggest they might otherwise be related to Arawak spe...

La Revista Peruana de Biología es una publicación de la Universidad Nacional Mayor de San Marcos

Mannose-binding lectin (MBL) is one of the five recognition molecules in the lectin complement pathway. Common variant alleles in the promoter and structural regions of the human MBL gene (MBL2) influence the stability and serum concentration of the protein. Epidemiological studies have shown that MBL2 variant alleles are associated with susceptibility to and the course of different types of infectious and inflammatory conditions. However, it has been suggested that these alleles are maintained in different populations due to selected advantages for carriers. We investigated the MBL2 allelic variation in indigenous individuals from 12 different West Central South America localities spanning from the desert coast, high altitude Andean plates and the Amazon tropical forest within the territories of Peru (n = 249) (Departments of Loreto, Ucayali, Lambayeque, Junin, Ayacucho, Huancayo and Pu...

La Revista Peruana de Biología es una publicación de la Universidad Nacional Mayor de San Marcos

Objective: Determine the distribution of the RS5522 polymorphism of the mineralocorticoid receptor gene NR3C2 according to its origin and altitude in Peruvian populations. Materials and methods: After signing the informed consent, adults from Lima (22), Ica-Chincha (14), Lambayeque-San José (16) participated; Puno-Uros (10), Puno-Taquile (6), Puno-Amantani (6), Arequipa-Chivay (10), Arequipa-Cabanaconde (6), Ancash-Parobamba (20), Apurímac-Andahuaylas (10), Apurímac-Abancay (10), Cajamarca-Puentecillos (13), Cajamarca-Ichocan (7), Loreto-Andoas (16), and San Martín-Lamas (22). Epidemiological and geographical data, biological blood sample and/or oral swab were collected. DNA extraction was performed using a standard technique. The determination of the RS5522 polymorphism was by real-time PCR. Variables were categorized by origin, geographic region (coast, mountains or jungle), and al...

Objective: Mutations in the ABCB1 gene have an impact on the response to various drugs and may be associated with the development of neoplasms. This study explores and compares the frequency distribution of the 1236T>C polymorphism in theABCB1 gene among nine Peruvian populations from different geographical origins and altitudes, as well as the genotype/allele frequencies reported in populations from various continents worldwide. Materials and methods: Sampling was carried out in the following departments and localities: Lima (n = 8), Loreto–Andoas (n = 16), San Martín–Lamas (n = 16), Puno–Uros (n = 7), Puno–Taquile (n = 5), Arequipa–Chivay (n = 10), Arequipa–Cabanaconde (n = 6), Ancash–Parobamba (n = 10), and Apurímac–Andahuaylas (n = 10). Biological samples (peripheral blood and/or epithelial cells) were collected via buccal swabs. Deoxyribonucleic acid (DNA) was e...

Anales de la Facultad de Medicina es una publicación de la Universidad Nacional Mayor de San Marcos.

Objective: To determine the frequency of the C282T polymorphism of the NAT2 gene (N acetyltransferase) in Peruvian populations. Field work, focused on exploring genetic risk factor in Peruvian populations, which has influence in the response to drugs and malignancies aetiology. Material and Methods: Cross-sectional study. 166 voluntaries from Lima, Lambayeque, Apurimac, Puno, San Martin, Amazonas and Loreto were enrolled. The sampling was done by convenience and it was use the RFLP-PCR conventional technique was used. Results: The allele frequency were 54% (n=126) for C282 and 46% (n=106) for T282. For the T allele, by its orign , stand out 2 those which origins were Lima 42% (n=25), Amazonas 47% (n=16), San Martin 74% (n=28) and Apurimac 50% (n=13) (X , p>0.05). A global genotype frequency were 26.7% (n=31) for C282/C282, 56.0% (n=65) for C282/T282 and 17.2% (n=20) for T282/T282 (Har...

La Revista Anales de la Facultad de Medicina es una publicación de la Universidad Nacional Mayor de San Marcos

El cromosoma Y humano contiene marcadores altamente informativos para hacer inferencias históricas sobre el poblamiento precolombino de América. Sin embargo, la escasez de estos marcadores ha limitado su uso en la inferencia de ascendencia compartida y las migraciones pasadas pertinentes al origen de las diversidades cultural y biológica nativos americanos. Para identificar nuevos polimorfismos de nucleótido único (SNP) y aumentar la resolución filogenética del haplogrupo Q importante encontrado en las Américas, hemos realizado una búsqueda de nuevos polimorfismos basados en la secuenciación de los cromosomas Y divergentes identificados por análisis de haplotipos de microsatélites. Con este enfoque, un nuevo Y-SNP (SA01) ha sido identificado en las poblaciones andinas de América del Sur, lo que permite la detección de una nueva sublinaje de Q1a3a. Este sublinaje muestra una...

The diversity of the five single nucleotide polymorphisms located in genes of the TP53 pathway (TP53, rs1042522; MDM2, rs2279744; MDM4, rs1563828; USP7, rs1529916; and LIF, rs929271) were studied in a total of 282 individuals belonging to Quechua, Aymara, Chivay, Cabanaconde, Yanke, Taquile, Amantani, Anapia, Uros, Guarani Ñandeva, and Guarani Kaiowá populations, characterized as Native American or as having a high level (> 90%) of Native American ancestry. In addition, published data pertaining to 100 persons from five other Native American populations (Surui, Karitiana, Maya, Pima, and Piapoco) were analyzed. The populations were classified as living in high altitude ( 2,500 m) or in lowlands (< 2,500 m). Our analyses revealed that alleles USP7-G, LIF-T, and MDM2-T showed significant evidence that they were selected for in relation to harsh environmental variables related to high alt...