[Inheritance of individual fingerprint pattern numbers].
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Databases, Genetic↗
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Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis.
We describe a family affected by X linked severe combined immunodeficiency (SCIDX1) in which genetic prediction of carrier status was made using X chromosome inactivation studies together with limited genetic linkage analysis. Linkage studies in this family showed a confusing pattern of inheritance for the X chromosome. A female with a random pattern of X chromosome inactivation in her T cells appeared to have inherited an X chromosome with four recombinations within 10 cM. The odds of this happening in a single meiotic event make this an unlikely explanation. Data obtained from studying the X chromosomes of her two unaffected sons showed that this could be explained simply on the basis of her having inherited three alleles each of the relevant polymorphic DNA loci. We used fluorescent in situ hybridisation (FISH) to confirm that this person had inherited three complete X chromosomes. Thus, although the results from X chromosome inactivation analysis indicated that this subject was not a carrier of the affected chromosome, FISH and genetic linkage analysis showed clearly that the affected chromosome had been inherited. The implications of this finding for diagnosis of carrier status in this family and for other families with X linked inherited immunodeficiencies is discussed.
Chromosome Mapping↗
Familial patterns and possible modes of inheritance of primary affective disorders.
A logistic model was used to analyze the pattern of affected relatives of probands with primary affective disorders (PAD). The sample consisted of 242 patients, diagnosed as either unipolar (UP, 107) or bipolar (BP, 135) and 430 control nonpsychiatric inpatients and all first degree relatives of both groups. Age correction was applied to both groups. The analysis showed a significant baseline increase in frequency of PAD among relatives of PAD probands with siblings more likely to be affected than parents. The difference in frequency of PAD according to sex of relative almost reached significance. Specific diagnosis (UP or BP) of proband did not significantly affect the probability of relatives becoming ill. Genetic models incorporating sex-specific thresholds were able to explain the data satisfactorily as resulting from either Single-Major-Locus inheritance or Multifactorial-Polygenic inheritance.
Bipolar Disorder↗
Familial progressive supranuclear palsy. Description of a pedigree and review of the literature.
We describe a family with autosomal dominant progressive supranuclear palsy (PSP) involving five generations which was confirmed in one patient. The proband presented with progressive slowness at age 53 years, followed by ocular palsy, loss of balance, axial dystonia, dysphagia and dysarthria, and died at age 59 years. Neuropathological examination revealed moderate numbers of neurofibrillary tangles without prominent senile plaques in the cortex, and neuronal loss, gliosis and moderate to severe accumulation of tangles in the basal ganglia and brainstem. Other affected relatives, including the proband's sister, father, paternal uncle, and other members of earlier generations presented with non-characteristic akinetic syndromes, which progressed towards more typical PSP only after several years of disease. A review of the literature revealed six other families with neurodegenerative disorders associated with pathological findings compatible with PSP in at least one member. The clinical symptoms varied greatly between individuals in these families. The pattern of inheritance seems compatible with autosomal dominant transmission, although other patterns of transmission could not be excluded. We conclude that there is an autosomal dominant form of PSP and that the number of hereditary cases may be greater than previously thought. The rarity of familial cases of PSP could be attributed to diagnostic problems, including lack of recognition of atypical cases and death of the gene carriers before the age of appearance of the clinical symptoms. Large families with hereditary PSP could provide an adequate point of departure for investigation of the gene defect responsible for this disease.
Aged↗
Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is a neurodegenerative disorder which is associated with a CAG repeat expansion in the MJD1 gene on chromosome 14q32.1. A recent study reported an excess of transmission of disease chromosomes relative to normal chromosomes from affected fathers, while this phenomenon was not observed in female meioses. These data were compatible with meiotic drive. We investigated the transmission of alleles with larger versus smaller CAG repeat numbers in the MJD1 gene in normal heterozygotes from the 40 CEPH families. Our data suggest that there was no segregation distortion in male meioses, while the smaller CAG allele was inherited in 57% of female meioses (p < 0.016). The pattern of inheritance of smaller versus larger CAG alleles at this locus was significantly different when male and female meioses were compared (p = 0.0139). While previous data suggest that meiotic drive may be a feature of certain human diseases, including the trinucleotide diseases MJD, myotonic dystrophy, and dentatorubral-pallidoluysian atrophy, these data are compatible with meiotic drive also occurring among non-disease associated CAG sizes.
Alleles↗
Familial multiple lipomatosis.
BACKGROUND: Familial multiple lipomatosis is an extremely rare disease. The disease usually does not affect the daily life of FML victims, but they may experience difficulty in performing everyday physical tasks if the lipomas are multiple and large. Inheritance is frequently by autosomal dominant transmission, although cases with recessive inheritance have also been reported. OBJECTIVES: To determine the pattern of inheritance of the disease in a family with 83 members spanning three generations. METHODS: A complete family analysis was performed and all surviving members of the family were examined. Laboratory investigations were conducted in those with FML, including serum lipid, cholesterol and glucose levels, white blood cell count, hemoglobin, erythrocyte sedimentation rate, and renal and hepatic function tests. RESULTS: There were no consanguineous relationships between spouses in the family. The disease was first seen on the neck of the (male) index patient. This patient had 4 sons, 8 daughters and 60 grandchildren. The disease was established in four of his daughters and two of his sons. One of the female grandchildren whose mother has the disease was also affected. The laboratory findings were normal for all patients. CONCLUSION: Our findings showed that a) the disease is transmitted by the autosomal dominant route of inheritance; and b) lipomas observed at an early age may be numerous and large, may diffuse, and sometimes have to be excised surgically.
Adult↗
Inherited bleeding syndromes in Jordan.
This paper presents data on the occurrence and pattern of inherited bleeding syndromes (IBS) in Jordan, a hitherto unexplored problem. In 1978, during the first 12 months of a prospective study at a major medical center, 91 patients from 51 families were diagnosed as having IBS. All patients were referred because of moderate-to-severe bleeding diatheses; they included 52 hemophiliacs, 27 patients with von Willebrand's disease, 4 with hemophilia B (IX-deficit), 2 with afibrinogenemia, 1 with prothrombin deficiency, and 4 were thought to have platelet dysfunction. The clinical and laboratory features of the patients observed in Jordan do not seem to be significantly different from those of patients in Western Europe or North America.
Adolescent↗
Inherited bleeding syndromes in Iraq.
This paper presents data on the occurence and pattern of inherited bleeding syndromes (IBS) in Iraq, a hitherto unexplored problem. During the first fourteen months of a prospective on-going study at a major university center, 116 patients from 62 families were diagnosed as having IBS. All patients were referred because of moderate to severe bleeding diatheses. They included 62 haemophiliacs 32 patients with von Willebrand's disease (VWD), 9 with Christmas disease (CD), 6 with afibrinogenemia, 1 with prothrombin deficiency, and 6 were thought to have platelet dysfunction. 32 other bleeders (16 hemophiliacs, 14 VWD, and 2 CD) were also recognized among the pedigrees studied but were not available for full investigations. The clinical and laboratory features of the patients observed in Iraq do not seem to be significantly different from those of patients in Western Europe or North America. Although the absolute incidence and relative distribution of these disorders in the entire population cannot yet be determined, the rate of occurence per segment population is likely to be high, most likely due to the high rate of consanguinity and large number of births per family, phenomena still prevalent in this country.
Adolescent↗
Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance.
BACKGROUND: Familial hiatal hernia has only rarely been documented. AIMS: To describe the pattern of inheritance of familial hiatal hernia within an affected family. SUBJECTS: Thirty eight members of a family pedigree across five generations. METHODS: All family members were interviewed and investigated by barium meal for evidence of a hiatal hernia. RESULTS: Twenty three of 38 family members had radiological evidence of a hiatal hernia. No individual with a hiatal hernia was born to unaffected parents. In one case direct male to male transmission was shown. CONCLUSIONS: Familial inheritance of hiatal hernia does occur. Evidence of direct male to male transmission points to an autosomal dominant mode of inheritance.
Adolescent↗
Patterns of organellar and nuclear inheritance among progeny of two geographically isolated strains of Volvox carteri.
Strains of Volvox carteri forma nagariensis derived from Japanese and Indian isolates ("J" and "I" strains, respectively) exhibited length differences (RFLPs) for approximately 90% of the restriction fragments detected by hybridization with a variety of unique-sequence, small-gene-family and repetitive-element probes, including heterologous probes of chloroplast and mitochondrial origin. Extensive post-zygotic mortality was observed among the zygotes produced by crossing J and I strains, suggesting some form of genetic incompatability between them. Most of the viable progeny exhibited recombinant patterns of nuclear inheritance and maternal inheritance of mitochondrial and chloroplast markers. However, many progeny exhibited exclusively uniparental (usually maternal, but in one case paternal) inheritance of both nuclear and organellar markers. Some of these non-recombinant individuals may be derived from "parthenospores" (dormant asexual cells resembling zygospores). Others may be a result of "pseudogamy," in which one of the parental pronuclei is excluded from the zygote, followed by selective exclusion of both the mitochondrial and the chloroplast genomes derived from that same parent. When segregation patterns for 44 nuclear markers were analyzed in 90 recombinant progeny, statistically significant, locus-specific deviations from expected Mendelian transmission ratios were observed for a sizeable fraction of all markers in both reciprocal crosses: some markers were preferentially transmitted by the J strain, while others were preferentially transmitted by the I strain. It is speculated that these transmission distortions may be related to the regions of inter-isolate genetic incompatibility, and may complicate the use of J x I crosses to establish a RFLP-based linkage map for the species.
Animals↗
Patterns of X-linked inheritance: A new approach for the genome era.
PURPOSE: The concepts of X-linked (XL) dominant and recessive inheritance originated long before dosage compensation for X chromosome genes was understood, but now have no scientific basis. However, misunderstanding of the underlying biology persists, prompting our reassessment of XL inheritance. METHODS: We reviewed data on penetrance, expressivity, and X chromosome inactivation (XCI) for 55 XL genes and 57 XL disorders, and examined variations in inheritance based on disease severity, XCI status, cell selection, and other factors. RESULTS: Our analysis demonstrated widely varying penetrance among heterozygous females that was related to severity of the phenotype particularly in males, the degree of cell selection shown by XCI patterns, cell autonomous or non-cell autonomous function of the gene product, and rare cellular interference. CONCLUSION: The conventional classification of XL inheritance into dominant and recessive subtypes is biologically flawed and should be retired. A more nuanced framework for understanding XL disorders is needed that accounts for the underlying biological complexity, and we propose 4 new groups of XL disorders with different patterns that should improve genetic diagnosis and counseling in families with XL disorders.
Humans↗
Polymorphism of major ribosomal gene chromosomal sites (NOR-phenotypes) in the hybridogenetic fish Squalius alburnoides complex (Cyprinidae) assessed through crossing experiments.
Chromosomal locations of major ribosomal sites, i.e. NOR-phenotypes, were assigned in Squalius alburnoides complex using sequential chromomycin A3 (CMA3)- and silver (Ag)-staining. This hybridogenetic Iberian minnow comprises diploid, triploid and tetraploid forms that arose by interspecific hybridisation between S. pyrenaicus and an unknown species. Inheritance of NOR patterns was studied by means of crossing experiments involving most diploid-polyploid forms of the S. alburnoides complex with identified specific genotype constitution. In all the specimens studied, the NORs were localised in the short arms of submetacentric chromosomes. Although S. pyrenaicus presented only one pair of NOR-bearing chromosomes, the data from experimental crosses evidenced that S. alburnoides complex was characterised by a multiple NOR phenotype composed of one chromosome pair with stable NORs and two chromosome pairs with NOR site polymorphism of presence/absence type. These data suggest that the karyotype of the unknown parental species of the S. alburnoides complex should have a multiple NOR pattern and emphasised the role of the all-male diploid linage in the dynamics and evolutionary potential of the S. alburnoides complex allowing the preservation of the missing ancestor genome. Cross-analyses evidenced that in spite of the high polymorphic nature of NORs in this fish complex, we have no reason to reject the hypothesis that their inheritance patterns were in accordance with Mendelian segregation.
Animals↗
Familial iron overload with possible autosomal dominant inheritance.
A 96 member Melanesian kindred with 31 cases of iron overload is reported. Liver biopsies from 19 of these patients showed features similar to those of genetic haemochromatosis in Caucasians, but in contrast to the previous reported HLA-linked autosomal recessive pattern of inheritance for haemochromatosis, this family shows a pattern that is most consistent with autosomal dominant inheritance. This is suggested by involvement of three and possibly four consecutive generations, with a high frequency of transmission from parents to children and equal gender distribution. Linkage and segregation analysis supported dominant inheritance, with no demonstrable HLA linkage.
Female↗
Daughter and her mildly affected father with Keipert syndrome.
A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance.
Abnormalities, Multiple↗
Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal.
Pairing of human X and Y chromosomes during meiosis initiates within the so-called pairing region at the telomeres or the chromosome short arms. Using DNA from the Y chromosome we found sequence homology in the pairing region of the human X and Y chromosomes. This DNA is telomeric, contains repetitive sequences and is highly polymorphic in the population. The polymorphism has allowed family studies which show the sequences are not inherited as though linked to the sex chromosomes. This 'pseudoautosomal' pattern of inheritance points to an obligate recombination in the pairing region of the sex chromosomes during male meiosis.
Chromosome Mapping↗
Clonal coat color variation due to a transforming gene expressed in melanocytes of transgenic mice.
Transgenic mice of an inbred black strain were previously produced with the Tyr-SV40E transgene, comprising simian virus 40 transforming sequences driven by the tyrosinase promoter, in order to obtain melanomas; the animals were found to be lighter than normal in coat color, to various degrees. As described here, hypopigmentation resulted from diminished differentiation of melanized pigment granules in the melanocytes of the hair bulbs in vivo and occurred autonomously in cultured melanocytes. Whereas some of the mice had single-color coats, most (7/13) had coats of two or three colors; in addition, one single-color founder produced a two-color descendant. These eight mice had patterns seen in natural genotypes; the most striking were transversely striped to various extents, with regions of left-right asymmetry on either side of the dorsal midline. The patterns visualized the same clonal developmental territories of coat melanocytes displayed in allophenic mice that are formed from conjoined early embryo cells of different color genotypes. Some of the Tyr-SV40E transgenics were also cellular genotypic mosaics, probably arising by late integration of the transgene. However, one transgenic founder with a completely striped coat proved to be true-breeding, with autosomal inheritance of the pattern. The inherited striped pattern thus exemplifies the formation of phenotypically different but genetically identical developmental clones, or phenoclones, among cells of the same type. This line of transgenic mice provides exceptional material for experimental analysis of the molecular basis for clonal variation in gene expression and of the fate of oncogenic phenoclones of melanocytes occurring in the same individual.
Animals↗
Inheritance and expression of a sex-linked enzyme in the frog, Rana clamitans.
The pattern of inheritance indicates that the gene for aconitase-1 is sex linked in the frog. Rana clamitans, and that the male is the heterogametic sex. Unlike mammals, both male and female frogs carry and express two alleles for this sex-linked gene. Therefore, the sex chromosomes in these frogs and probably others behave like an autosomal pair, with one homologue carrying a male-determining element.
Aconitate Hydratase↗
New alleles of IGKV genes A2 and A18 suggest significant human IGKV locus polymorphism.
The human kappa light chain consists of approximately 35 potentially functional IGKV genes. However, an estimation of the diversity in the IGKV repertoire of an individual will be affected by the extent of polymorphisms for the different IGKV genes and their patterns of inheritance. To date, little information is available to indicate the extent of allelic variation of the IGKV genes. We examined the extent of allelism for one IGKV gene pair, the distal region A2 gene and its closely related proximal region duplicate A18. We found two new alleles for A2 and one new allele for A18, and sequenced approximately 1 kilobase flanking each gene. The new A18 allele, unlike the originally described allele, appears to be functional. All these alleles were found at relatively high frequencies in the four ethnic populations studied, with the exception of the defective A2b allele which was highly represented only in Navajos. The originally described A2a allele encodes for the predominant protective antibody against Haemophilus influenzae. Therefore, the patterns of allelic inheritance described for this IGKV gene pair indicate that allelism in the IGKV locus is likely to have a significant impact on immune responses.
Alleles↗