Impaired condensin complex and Aurora B kinase underlie mitotic and chromosomal defects in hyperdiploid B-cell ALL.

B-cell acute lymphoblastic leukemia (ALL; B-ALL) is the most common pediatric cancer, and high hyperdiploidy (HyperD) identifies the most common subtype of pediatric B-ALL. Despite HyperD being an initiating oncogenic event affiliated with childhood B-ALL, the mitotic and chromosomal defects associated with HyperD B-ALL (HyperD-ALL) remain poorly characterized. Here, we have used 54 primary pediatric B-ALL samples to characterize the cellular-molecular mechanisms underlying the mitotic/chromosome defects predicated to be early pathogenic contributors in HyperD-ALL.

Rapid screening method for detecting mutations in the 21-hydroxylase gene.

Impaired synthesis of adrenal steroid hormones because of steroid 21-hydroxylase deficiency is one of the most common inborn errors of metabolism. To expedite molecular diagnosis in families with 21-hydroxylase deficiency, we have designed a rapid strategy to determine nine of the most common mutations in the 21-hydroxylase gene. According to the mutation to be detected, we apply either of two simple strategies: digestion with adequate restriction enzyme or use of the amplification-created restriction site (ACRS) approach and subsequent restriction analysis.

[Familial study for the early diagnosis of insulin-dependent diabetes mellitus].

Background: Diabetes is more frequently found than expected in families of first grade with children with diabetes type I.

Methods: With the aim of identifying the potential candidates prone to develop diabetes type I, genetic and metabolic analysis was carried out on the members of 11 families with a diabetic type I child. They were distributed into three groups: 11 diabetic patients (IDDM); 22 progenitors and 13 unaffected siblings.

[Susceptibility to chronic HLA-system-associated lymphocytic thyroiditis. Its relationship with insulin-dependent diabetes mellitus].

The genetic association between HLA-system and chronic lymphocytic thyroiditis (CLT) related or not to type I diabetes mellitus (IDDM), have been analysed in three groups of children: 16 with CLT, 9 with CLT and IDDM, 11 with IDDM and 200 normal controls. The DQw1 antigen (75% vs 55%) was found associated with CLT, furthermore the observed increase of DR1 and DR2 antigens (37% respectively) is secondary to the linkage disequilibrium that exists between them and DQw1. DR3 antigen (60%) was found significantly increased (p less than 0.