Abstract
Tuberous sclerosis (TSC) is a dominantly inherited disorder characterized by hamartomas and hamartias in one or more organs, most often in skin, brain, and kidneys. Analysis of the basic genetic defect in tuberous sclerosis would be greatly expedited by definitive determination of the chromosomal location of the TSC gene or genes. We have carried out genetic linkage studies in 15 TSC families, using 34 polymorphic markers including protein markers and DNA markers. Pairwise lod scores were calculated using LIPED, and multipoint analyses were carried out using MENDEL. In the pairwise linkage analysis, using a penetrance value of 90%, a significant positive lod score was obtained with MCT128.1 (D11S144), 11q2211q23, Z max 3.26 at θ = 0.08. The tyrosinase probe TYR (11q1411q22) gave a maximum lod score of 2.88 at θ = 0. In the multipoint analyses the most likely order is (TYR, TSC)-MCT128.1-HHH172. Homogeneity analysis was carried out using the USERM9 subprogram of MENDEL, which conducts the admixture test of C. Smith (1963, Ann. Hum. Genet. 27: 175182). This test provided no evidence for genetic heterogeneity (that is, non-11-linked families) in this data set.
Highlights
Tuberous sclerosis (TSC) is a dominantly inherited disorder characterized by hamartomas and hamartias in one or more organs, most often the skin, brain, and kidneys (Gomez, 1988)
In this paper we describe results of linkage analysis carried out in 15 families with tuberous sclerosis, using 34 polymorphic markers, including protein markers and DNA markers
The assignment of a TSC gene to the vicinity of the tyrosinase gene is of interest in view of the abnormalities of pigmentation seen in this disorder
Summary
Tuberous sclerosis (TSC) is a dominantly inherited disorder characterized by hamartomas and hamartias in one or more organs, most often the skin, brain, and kidneys (Gomez, 1988). Both hamartias and hamartomas represent developmental abnormalities characterized by abnormal cell or tissue arrangement and abnormal function. Hamartomas are distinguished by the additional feature of abnormal cellular proliferation Dominant inheritance of this disorder was first reported by Gunther and Penrose (1935). These analyses allowed them to exclude TSC for a distance of 20 CM adjacent to the ABO locus. In this paper we describe results of linkage analysis carried out in 15 families with tuberous sclerosis, using 34 polymorphic markers, including protein markers and DNA markers
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