Premium
6‐Phosphogluconate dehydrogenase (6‐P‐GD) in Down's syndrome
Author(s) -
Lisker RUBÉN,
Mora Guillermina,
Buentello Leonora,
Armendares Salvador
Publication year - 1971
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1971.tb00279.x
Subject(s) - locus (genetics) , dehydrogenase , genetics , down syndrome , meiosis , chromosome 21 , x chromosome , chromosome , enzyme , biology , endocrinology , medicine , gene , biochemistry
The question of whether the 6‐P‐GD system is located in chromosome 21 was approached in 2 ways: by measuring the erythrocyte 6‐P‐GD levels in children with Down's syndrome, and by studying the segregation of the electrophoretic variants of this enzyme in families with Down's syndrome individuals. Accepting that maternal meiotic non‐disjunction is the most frequent cause of the disease, there should be an excess of AB‐affected individuals born to AB mothers. The results do not support earlier suggestions that the 6‐P‐GD locus is located in chromosome 21.