Biomaterial Database

Gene markers identified in a private laboratory of the city of Puebla, Mexico. 1982

G Ruiz-Reyes

We describe the gene markers found during the last 20 years in a private laboratory in the city of Puebla, Mexico. The greater proportion of our experience has to do with abnormal hemoglobins.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008800	Mexico	A country in NORTH AMERICA, bordering the Caribbean Sea and the Gulf of Mexico, between BELIZE and the UNITED STATES, and bordering the North Pacific Ocean, between Guatemala and the UNITED STATES.
D010022	Osteopetrosis	Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).	Albers-Schoenberg Disease,Marble Bone Disease,Osteosclerosis Fragilis,Albers-Schonberg Disease,Albers-Schonberg Disease, Autosomal Dominant,Albers-Schönberg Disease,Autosomal Dominant Osteopetrosis Type 2,Congenital Osteopetrosis,Marble Bones, Autosomal Dominant,Osteopetrosis Autosomal Dominant Type 2,Osteopetrosis, Autosomal Dominant 2,Osteopetrosis, Autosomal Dominant, Type II,Osteosclerosis Fragilis Generalisata,Albers Schoenberg Disease,Albers Schonberg Disease,Albers Schonberg Disease, Autosomal Dominant,Albers Schönberg Disease,Disease, Albers-Schoenberg,Disease, Albers-Schonberg,Disease, Albers-Schönberg,Disease, Marble Bone,Osteopetroses,Osteosclerosis Fragilis Generalisatas
D010381	Pelger-Huet Anomaly	Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.	Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities,Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities,Pelger-Huet Nuclear Anomaly,Pelger-Huët Anomaly,Pelger-Huët Nuclear Anomaly,Pseudo Pelger-Huet Anomaly,Pseudo Pelger-Huet Nuclear Anomaly,Pseudo Pelger-Huët Anomaly,Anomaly, Pelger-Huet,Anomaly, Pelger-Huet Nuclear,Anomaly, Pelger-Huët,Anomaly, Pelger-Huët Nuclear,Anomaly, Pseudo Pelger-Huet,Anomaly, Pseudo Pelger-Huët,Nuclear Anomaly, Pelger-Huet,Nuclear Anomaly, Pelger-Huët,Pelger Huet Anomaly,Pelger Huet Nuclear Anomaly,Pelger Huët Anomaly,Pelger Huët Nuclear Anomaly,Pelger-Huet Anomaly, Pseudo,Pelger-Huët Anomaly, Pseudo,Pseudo Pelger Huet Anomaly,Pseudo Pelger Huet Nuclear Anomaly,Pseudo Pelger Huët Anomaly
D004612	Elliptocytosis, Hereditary	An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.	Ovalocytosis, Hereditary,Elliptocytoses, Hereditary,Hereditary Elliptocytoses,Hereditary Elliptocytosis,Hereditary Ovalocytoses,Hereditary Ovalocytosis,Ovalocytoses, Hereditary
D005260	Female		Females
D005819	Genetic Markers	A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.	Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006455	Hemoglobins, Abnormal	Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.	Abnormal Hemoglobins
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013789	Thalassemia	A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.	Thalassemias