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D-Loop mtDNA deletion as a Unique marker of chibchan Ameridians [resumen]
(1994)
Carta al editor. Torroni et al. (1993) presented an extensive restriction-site analysis of Native American mtDNAs from 17 widely dis- tributed Na-Dene and Amerindian tribes. For sometime we have been analyzing mtDNA control ...
Genetic variation in the Bribri and Cabecar Amerindians from Talamanca, Costa Rica
(1991)
A screening of more than 40 loci was performed in the Bribri and Cabecar Amerindian populations of Talamanca in Southeastern Costa Rica. Some differences were found in the distribution (presence or absence) of the variants ...
A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3
(American Journal Human Genetic ; 68 (1 p. 269-274, 2001)
Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus ...
Análisis de varios marcadores genéticos clásicos en la población de Costa Rica
(2001)
A study of several loci blood groups (ABO, Diego, Duffy, Kell, Kidd, Lewis, Lutheran, MNSs, P,
Rhesus and Secretor), and Hp serum protein was carried out on a sample of 2 196 unrelated Costa Rican individuals
of both ...
mtDNA variation in the chibcha ameridian huetar from Costa Rica
(1994)
The genetic variation in a Chibcha-speaking Amerindian tribe from lower Central America, the Huetar, was analyzed using nucleotide sequences of the hypervariable segments of the mitochondria! DNA (mtDNA) control region, ...
A novel myosin heavy chain gene in human chromosome 19q13.3
(Gene: 312 p. 165-171, 2003-07)
A human myosin heavy chain gene was identified in chromosome 19q13 by computational sequence analysis, RT-PCR and DNA
sequencing of the cDNA. The complete cDNA has a length of 6786 bp and comprises 41 exons (40 coding) ...
Phenylketonuria in Costa Rica: preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes
(1996)
A preliminary evaluation of the molecular basis of phenylketonuria (PKU) in Costa Rica was made by performing mutational analyses in the six PKU families identified to date. These studies revealed the presence of the ...
Lack of a BglII site at the 5’ region of the PGK 1 locus: a new variant discovered in two Chibchan Amerindian groups from Costa Rica
(1995)
A new 3.8-kb allele at the 5" region of the PGK 1 locus detected by the probe pSPT/PGK is reported. This variant was discovered in the Cabecar and Guaymi, two Chibchan Amerindian groups of Costa Rica. So far, a polymorphism ...
Direct screening of a mitochindrial DNA deletion valuable for Ameridian evolutionary research [resumen]
(1994)
A rapid, simple restriction isotyping method is described for the direct screening of a previously characterized Amerindian mitochondrial DNA (mtDNA) marker ;onsisting of a 6-bp "Huetar" deletion. In a sample of 31 maternally ...
Distribution and Evolution of CTG Repeats at the Myotonin Protein Kinase Gene in Human Populations
(1996)
We have analyzed the CTG repeat length and the neighboring Alu insertion/deletion (+/-) polymorphism in DNA samples from 16 ethnically and geographically diverse human populations to understand the evolutionary dynamics ...