Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations.
To investigate the origin of von Willebrand disease in Mexican Mestizo population, we analyzed exons 18, 19, 20, 28, 45, and 52 of the VWF gene from 34 Mexican Mestizo index cases, 28 of them affected but not related, using DNA amplification by polymerase chain reaction and direct sequencing. We found three novel mutations: E1447Q in one patient with type 1; P2781S in one patient with type 2M; and P812L in another type 1/2N patient. These mutations were not found in 100 normal alleles. Moreover, we found other mutations previously reported in the literature; one of them (G1609R) was the most frequent (6/28) in patients with VWD type 2A. This is the first molecular study in a Mexican group that has a particular mixture of Indigenous, Caucasian, and African genes.
Melo-Nava
Brenda M
BM
Unidad de Investigación Médica en Genética Humana, Centro Médico Nacional Siglo XXI (CMN SXXI), Instituto Mexicano del Seguro Social (IMSS), Mexico City, Mexico.
Benítez
Herminia
H
Palacios
J Jorge
JJ
Nieva
Beatriz
B
Arenas
Diego
D
Jaloma-Cruz
A Rebeca
AR
Navarrete
Carmen
C
Salamanca
Fabio
F
Peñaloza
Rosenda
R
D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008800:Mexico; D020125:Mutation, Missense; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics
D014841:von Willebrand Factor