Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.

Background: Thoracic aortic aneurysm (TAA) is a potentially life-threatening disorder with a strong genetic component. The number of genes implicated in TAA has increased exponentially over the last decade. Approximately 20% of patients with TAA have a positive family history.

The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.

A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.

Localization of the gene for X-linked Alport's syndrome.

X-chromosomal DNA probes defining various polymorphic DNA markers were used to study genetic linkage in three families with Alport's syndrome. With the DXS17 marker, only a single cross-over was observed in 26 informative meioses, and evidence for linkage was also obtained with the DXS11 marker. These data localize the gene for the X-linked form of Alport's syndrome to the middle of the long arm of the X chromosome.

Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q.

In seven large families with myotonic dystrophy (DM) comprising 102 individuals, linkage studies were performed employing restriction fragment length polymorphisms in the complement component 3 gene and the 19cen C banding heteromorphism as genetic markers. Three-point linkage analysis excludes DM from the 19cen-C3 segment and strongly supports its assignment to the proximal long arm of chromosome 19.