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Congenital absence of teeth is a heritably phenomenon probably most often passed to each generation by an autosomal dominant pattern with incomplete penetrance and variable expressivity. Correlation of hypodontia with systemic disease leads to the hypothesis that this frequent dental anomaly may in some cases be a microform of systemic ectodermal dysplasia.
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A breeding colony of Macaca fascicularis was established at the New England Regional Primate Center in 1977 and continued through 1984. Characterization of the offspring of this colony at 18 and 30 months of age suggested that higher blood pressure levels are hereditary in M. fascicularis, but evidence to date cannot determine if this condition is harmful to the animals.
We present 10 patients with autosomal dominant transmission of a pigmentary pattern characterized by facial, lip, extremity, buttock, and palmoplantar small, discrete hyperpigmented macules. None of the patients had lesions of the oral mucosa or internal organ system abnormalities. These patients' pigmentary pattern can resemble the ones seen in other lentiginosis syndromes. Those most closely mimicked--the Peutz-Jeghers syndrome, the centrofacial lentiginosis syndrome, and Carney's syndrome--all have associated internal abnormalities. We believe the pattern of pigmentation in these 10 black patients is distinct.
The fluorescence anisotropy of 1,6-diphenyl-1,3,5-hexatriene in labeled platelet membranes, an index of membrane fluidity, is a stable, familial trait that is associated with a clinically distinct subtype of Alzheimer disease. Complex segregation analysis of this continuous variable was performed on 95 members of 14 pedigrees identified through probands who had autopsy-confirmed or clinically diagnosed Alzheimer disease. The results suggest that platelet membrane fluidity is controlled by a single genetic locus, PMF, with two alleles that have additive effects. The PMF locus appears to explain approximately 80% of the total variation in platelet membrane fluidity within the families of patients with Alzheimer disease.
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The clinical manifestations of amelogenesis imperfecta (AI) were described in 165 individuals from 51 families. The inheritance pattern for AI in these families had previously been investigated, and it was hypothesized that AI probably is solely an autosomal dominant (AD) or X-linked trait. To test this hypothesis the connection between clinical manifestation and inheritance pattern was studied. Eight different variants of AI were seen. In 33/51 families all affected individuals could be assigned to the same clinical variant. In 8/51 families those affected were assigned to different clinical variants. In the two families where an X-linked recessive (XR) inheritance pattern was found probable, the clinical manifestation differed between women and men. Except for one variant only seen as an AD trait, and the manifestation in women in families with an X-linked recessive inheritance pattern, no connection was found between a specific inheritance pattern and a specific clinical manifestation. Accordingly it seems likely that AI is solely an AD or X-linked trait. The different clinical variants observed should be regarded as a varying expressivity of the gene and in the families with X-linked inheritance probably due to lyonization. In the remaining families the modifying mechanisms are not known.
The authors report studies on four pairs of donors and recipients in bone marrow transplantation (BMT). A broad range of gene markers at 41 gene loci, including 11 red blood cell markers, 5 human lymphocyte antigen (HLA) types, 12 serum protein markers, 5 red cell enzyme markers, and 8 salivary markers were evaluated before and after BMT over 2 months. As a result, 9 out of 41 gene loci of genetic markers in recipients were transformed into the donor type. BMT between family members may lead to transformation of gene markers, but within a pattern compatible with family inheritance patterns, and no genetic paradox will be found in later surveys of familial genetic relationships. However, in a personal identification system in forensic medicine using genetic markers as an index, the appearance of a phenotype incompatible with a blood relationship is possible after BMT with a non-blood-relative donor. This result is similar to the inheritance pattern observed after artificial insemination by a donor's semen (AID), a more complete out-of-family cross.
The Schwartz-Jampel syndrome (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity. The inheritance pattern of SJS has been assumed to be autosomal recessive. We report the occurrence of the classic SJS syndrome in both a father and son in a non-consanguineous family, suggesting that SJS has the potential for a dominant pattern of inheritance.
A family is described in which two females are more severely affected by hereditary opalescent dentine than the males. The genealogy of this family does not provide an accepted pattern of inheritance for this dentine anomaly. This may indicate that there is considerable variation in inheritance patterns for hereditary opalescent dentine and that this trait does not always exhibit 100 percent penetrance.
Protoporphyria (PP) is an inherited disorder of porphyrin metabolism in man in which there is excessive accumulation and excretion of protoporphyrin. Recently, a similar disorder has been described in cattle. In this report, the clinical, biochemical, and genetic features of bovine and human PP are compared. Human and bovine PP are characterized by photosensitivity and elevation of erythrocyte and fecal protoporphyrin levels. In both disorders, a deficiency of heme synthase activity is present in all tissues which have been examined. The diseases differ clinically in that hepatobiliary disease has been found thus far only in human PP. They also have different inheritance patterns. Human PP is an autosomal dominant disease, while initial studies strongly suggest that there is an autosomal recessive pattern of inheritance in bovine PP.
The pattern of inheritance of autoantibodies in eight families chosen from a pool of 110 families of patients with systemic lupus erythematosus (SLE) is described. In all the eight families at least two members were already affected by SLE. In total, 19 patients and 43 first degree relatives were examined. The inheritance of a large set of antinuclear antibodies (for example, DNA, Sm, RNP, Ro, La, histones) and 16/6 idiotype seemed to be related to some unknown genetic factors but not related to HLA. The presence of numerous antinuclear autoantibodies in the serum of a subject was not necessarily associated with overt disease. The incidence of the 16/6 idiotype among patients and their relatives was low. It is not yet clear whether the 'autoantibody burden' is greater in families with multiple cases of SLE than in families with single cases.
A material of 22 primary and 4 permanent teeth from 22 children with amelogenesis imperfecta (AI) were examined by microradiographic techniques. The children were part of a patient material earlier examined in genetical and clinical studies. The results were compared with corresponding data two non-affected control groups and correlated with the available clinical and genetical data. Teeth were examined from seven of the eight different variants of AI seen in the clinical study. In most cases both hypoplasias and areas of hypomineralization were observed in the same tooth, indicating that both the secretory and the maturation phases of the amelogenesis are affected in AI. In teeth from children with the same clinical variant but different inheritance patterns, no specific finding could be related to a specific inheritance pattern. The findings in the one boy with AI as an X-linked trait were unique in this material. In all control teeth except one, no hypoplasisas or areas of hypomineralization were found in the enamel. In conclusion, the subclassification of AI into different forms can be questioned. Variations in clinical and histologic characteristics connected with the same inheritance pattern suggest that the genetic defect, in conjuction with a large biological variation, could explain the multiplicity in clinical expressivity that characterizes AI.
Except in the rare polyposis syndromes, the contribution of heritable factors to the genesis of colorectal cancer and adenomatous polyps is not well understood. We examined the inheritance of susceptibility to colonic polyps and cancer in a large Utah pedigree with multiple cases of common colorectal cancer but no recognizable inheritance pattern among them. Inheritance was clarified, however, by systematic screening for colonic polyps in pedigree members and spouse controls, using flexible proctosigmoidoscopy. One or more adenomatous polyps were found in 21 per cent of family members (41 of 191) but in only 9 per cent of controls (12 of 132) (P less than 0.005). Pedigree analysis was performed with likelihood methods that compared random occurrence of cancer and polyps with autosomal recessive and autosomal dominant patterns of inheritance. The analysis suggested that the observed excess of discrete adenomatous polyps and colorectal cancers was the result of an inherited autosomal dominant gene for susceptibility, rather than an inherited recessive gene for susceptibility or a chance occurrence. This type of inheritance of colorectal polyps and cancer may be more common than previously recognized.