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PubMed1982

Modelling fingerprint pattern inheritance.

The authors compare some genetic triallelic models for finger-print pattern inheritance built according to the Galton classification. These models keep at the same time into account the available information on fingerprints: population frequencies for individuals, matchings in couples of MZ-twins and in families composed of parents and their offspring. For every finger, on the basis of the data for individuals and twins, the probabilities of the genotypic population frequencies and a penetrance value are evaluated as parameters of a support (likelihood) function for each model. Then, by utilizing the data on families, the support given to the proposed models is evaluated. Finally, the support of the alternative models is synoptically considered for comparative purposes. In the present paper these models are tried with reliable data, collected and classified by Alciati and Folin, of the Institute of Anthropology of the University of Padua. The results substantially agree with the hypotheses formulated by other authors who did not utilize statistical models.

Dermatoglyphics↗
PubMed2002

Paternal chloroplast inheritance patterns in pine hybrids detected with trnL-trnF intergenic region polymorphism.

The inheritance patterns of the chloroplast genomes of shortleaf pine ( Pinus echinata Mill.), loblolly pine ( Pinus taeda L.) and slash pine ( Pinus elliottii Engelm.) were investigated through the trnL-trnF intergenic spacer polymorphism analysis. The DNA sequences of this spacer differ among these three closely related Pinus species. A modified 'cold' PCR-SSCP (single-strand conformation polymorphism) analysis of this spacer shows that the artificial hybrids (F1) from the shortleaf pine (seed parent) x loblolly pine (pollen parent) cross, exhibit the loblolly pine profile. Additionally, nine putative hybrids between shortleaf pine and loblolly pine, previously identified by the IDH (Isocitrate dehydrogenase) allozyme marker, presented the shortleaf pine profile indicating that shortleaf pine, not loblolly pine, sired all of the putative hybrids. Nondenatured polyacrylamide-gel electrophoresis of the trnL-trnF intergenic spacer demonstrated that the artificial hybrids (F1) from the cross, slash pine (seed parent) x shortleaf pine (pollen parent), present the shortleaf pine profile. Those results confirmed that the chloroplast genome is paternally inherited in these three species of the genus Pinus. The significance of the trnL-trnF intergenic region polymorphism and our modified 'cold' SSCP protocol for population genetic studies is discussed.

Journal Article↗
PubMed1976

Glucose-6-phosphate dehydrogenase of Biomphalaria glabrata (Say , 1818) (Mollusca: Pulmonata). Characterization and inheritance pattern.

Glucose-6-phosphate dehydrogenase of Biomphalaria glabrata has been characterized by electrophoresis, kinetic properties and inheritance pattern. It exists as a single electrophoretic band with no polymorphism in the natural population studied during the present investigations. There are no organ-specific differences in electrophoretic pattern. The enzyme from the homogenates of various organs e.g., albumen gland, digestive gland, ovotestis and columellar muscle show similar physico-chemical parameters, such as optima for pH, NADP and glucose-6-phosphate. Incorporation of NADP is essential for maintaining the stability of the enzyme, failing which, there appear artifactual variations in electrophoretic mobility of the enzyme. The apparent lack of polymorphism in natural population of Biomphalaria glabrata has been discussed.

Animals↗
PubMed2002

Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta.

Hypomaturation amelogenesis imperfecta (AI) is characterized clinically by enamel of normal thickness that is hypomineralized, mottled, and detaches easily from the underlying dentin. Autosomal dominant, autosomal recessive, X-linked, and sporadic modes of inheritance have been documented. The present study investigated the elemental composition of the enamel of teeth from individuals demonstrating clinical hypomaturation AI from families representing three of these patterns of inheritance. The aim of the study was to determine if there was any commonality in microscopic phenotype of this defect between families demonstrating the various inheritance patterns. One section from each tooth was microradiographed and then viewed in a scanning electron microscope (SEM) equipped with an ultrathin window energy-dispersive x-ray spectroscopy (EDX) detector. In the SEM, prisms and constituent crystals in discrete areas appeared to be largely obscured by an amorphous material. EDX analysis showed enamel outside these areas to have a composition indistinguishable from control teeth. However, within these affected areas there was a large increase in carbon content (up to a fivefold increase). In some teeth there was also a detectable but smaller increase in the relative amounts of nitrogen or oxygen. The results suggest the defect in these teeth with a common clinical phenotype, irrespective of the pattern of inheritance, demonstrates a commonality in microscopic phenotype. The large increase in carbon content, not matched by an equivalent increase in nitrogen or oxygen, suggests a possible increased lipid content. In those teeth with elevated nitrogen levels there may also be retained protein.

Amelogenesis Imperfecta↗
PubMed1993

Genetico-mathematical analysis of the inheritance pattern of peptic ulcer disease. II. Method of simple registration. Assessment of the direct methods of Weinberg.

The inheritance pattern of ulcer disease was analyzed by means of the method of simple registration. We also studied comparatively and assessed all direct methods of Weinberg using the coefficients of genetic proportion calculated by them as a criterion at complete inclusion of the investigated groups. 351 probands' families were studied: 57 with type II and 27 with type III gastric ulcer disease and 267 with duodenal ulcer disease. Gastric ulcer types were determined according to the classification of H. Johnson. The coefficient of genetic proportion in the cases of duodenal ulcer disease was additionally calculated according to the type of patients' familial pre-disposition. The coefficient of genetic proportion was found to acquire identical values for all groups studied without exception when calculated on the basis of one proband in a family (y = 1) both by the method of probands and the method of simple registration. The segregation coefficient values obtained using the direct methods of Weinberg do not support the hypothesis of monogenic transmission pattern either of the ulcer disease as a whole or of its different varieties.

Female↗
PubMed1976

Cytoplasmic inheritance in Saccharomyces cerevisiae: comparison of zygotic mitochondrial inheritance patterns.

Mitochondrial movements in Saccharomyces cerevisiae (Sc) zygotes were monitored with phase-contrast microscopy and compared to known mitochondrial inheritance systems. The mitochondria of Sc were convincingly identified by integrated use of phase-contrast, cytochemical and electron microscopic observations. Mitochondria in Sc appear to move by saltatory jumps, which appear to be oriented towards movement of mitochondria into developing buds. Tracking of mitochondria of different genotypes was made possible by positive identification of each mitochondrial population before zygosis, and by the low degree of mixing (less than 10%) of mitochondrial populations before first bud septation. A grande by grande cross demonstrated equal numbers of mitochondria from each haploid moving into the first zygotic bud. A grande by neutral petite cross gave a 2:1 ratio of grande to petite mitochondria. However, a grande by suppressive petite cross gave equal numbers of grande and petite mitochondria. Using drug resistance systems, a comparison was made of highly biased (97%) and moderately biased (71%) chloramphenicol resistant inheritance patterns. In both cases, the ratios of drug resistant to sensitive mitochondria were 1:1. When numbers of mitochondria moving into an individual bud were compared to the phenotypic content of the clone of that bud, no model could be constructed which could predict the latter from the former. The data indicate (with the exception of the neutral petite by grande cross) that the numbers of each mitochondrial type "inserted" into the first zygotic bud are equal, regardless of the degree of asymmetry of inheritance of mitochondrial markers.

Chloramphenicol↗
PubMed2000

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.

The Prader-Willi syndrome (PWS) critical region on 15q11-q13 is subject to imprinting. PWS becomes apparent when genes on the paternally inherited chromosome are not expressed. Familial PWS is rare. We report on a family in which a male and a female paternal first cousin both have PWS with cytogenetically normal karyotypes. Fluorescence in situ hybridization (FISH) analysis shows a submicroscopic deletion of SNRPN, but not the closely associated loci D15S10, D15S11, D15S63, and GABRB3. The cousins' fathers and two paternal aunts have the same deletion and are clinically normal. The grandmother of the cousins is deceased and not available for study, and their grandfather is not deleted for SNRPN. DNA methylation analysis of D15S63 is consistent with an abnormality of the imprinting center associated with PWS. "Grandmatrilineal" inheritance occurs when a woman with deletion of an imprinted, paternally expressed gene is at risk of having affected grandchildren through her sons. In this case, PWS does not become evident as long as the deletion is passed through the matrilineal line. This represents a unique inheritance pattern due to imprinting.

Adolescent↗
PubMed1991

Caries susceptibility in inbred mouse strains and inheritance patterns in F1 and backcross (N2) progeny from strains with high and low caries susceptibility.

We studied dental caries susceptibility in various inbred mice strains infected with Streptococcus mutans and the inheritance pattern in the F1 and the N2 backcross animals. A high caries score was observed in four laboratory strains, BALB/cAJcl, C57BL/6NJcl, C57BL/10Slc and DBA/2NJcl. Three strains, C3H/HeNJcl, AKR/JSlc and CBA/JNCrj, showed less caries. Males of strain C57BL/10Slc (mean caries score = 112.2) and females of strain C3H/HeNJcl (mean caries score = 24.0) were chosen for examinations of the inheritance of the caries susceptibility. The mean caries score in (C57BL/10Slc x C3H/HeNJcl) F1 hybrids was 98.4, demonstrating that F1 progenies were susceptible. A number of N2 mice were obtained by mating the F1 male and the C3H/HeNJcl female. The caries scores of these N2 male mice had an extensive range, from 14 to 194. Assuming that a caries score over 74 (median of the scores between C57BL/10Slc and C3H/HeNJcl) belonged to the highly caries-susceptible group, N2 mice could be divided into groups with low or high caries susceptibility. Furthermore, the effect of nu/nu mutation on caries susceptibility in mice was also examined.

Analysis of Variance↗
PubMed2003

Inheritance patterns of phenolics in F1, F2, and back-cross hybrids of willows: implications for herbivore responses to hybrid plants.

The aim of this study was to determine the inheritance pattern of phenolic secondary compounds in pure and hybrid willows and its consequences for plant resistance to leaf-feeding insects. F1, F2, and back-cross hybrids along with pure species were produced by hand pollination of pure, naturally-growing Salix caprea (L., Salicaceae) and S. repens (L.) plants. Leaf concentrations of condensed tannins and seven different phenolic glucosides were determined by using butanol-HCI and HPLC analyses. Insect herbivore leaf damage was measured on the same leaves as used for chemical analyses. We found hybrids to be approximately intermediate between the parental species: S. caprea with high levels of condensed tannins and no phenolic glucosides. and S. repens with low levels of condensed tannins and high levels of phenolic glucosides. We also found a negative correlation between concentrations of condensed tannins and phenolic glucosides, suggesting a trade-off in production of these two substances. F2 hybrids and the hybrid back-crossed to S. caprea were significantly more damaged by insect herbivores than the parental species and the F1 hybrid, indicating reduced resistance and possibly a selective disadvantage for these hybrid categories.

Adaptation, Physiological↗
PubMed1987

Patterns of inheritance of colonic polyps.

While the inheritance pattern of familial polyposis coli is established as an autosomal dominant pattern, the expression of the various extracolonic manifestations associated with the neoplastic polyposis is less well understood. The discrete polyp cancer syndrome may not be recognized unless both polyps and colon cancer are considered in the inheritance pattern. The hamartomatous polyps follow a Mendelian-dominant inheritance pattern for the Peutz-Jeghers syndrome, while the inheritance pattern for the juvenile polyposis syndromes is less clear. Cowden's disease appears in a Mendelian dominant pattern, but the occurrence of colonic polyps is less well documented. The ganglioneuromas follow a mendelian dominant inheritance pattern, while the relationship and occurrence of colonic polyps in association with Torre's syndrome is uncertain. The Mendelian dominant inheritance pattern for the cancer family syndrome is documented; the role of colon polyps in this syndrome is less well understood. A further understanding of the inheritance patterns of these various colon polyps will lead to more understanding of the basic disease and help in prevention and early detection for treatment and cure.

Adenomatous Polyposis Coli↗
PubMed2006

Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting.

BACKGROUND: Although the aetiology of moyamoya disease (MMD) has not been fully clarified, genetic analysis of familial MMD (F-MMD) has considerable potential to disclose it. OBJECTIVE: To determine the inheritance pattern and clinical characteristics of F-MMD to enable precise genetic analyses of the disease. METHODS: 15 highly aggregated Japanese families (52 patients; 38 women and 14 men) with three or more affected members were examined. The difference in categories of age at onset (child onset, adult onset and asymptomatic) between paternal and maternal transmission was compared by chi2 statistics. RESULTS: In all families there had been three or more generations without consanguinity, and all types of transmission, including father-to-son, were observed. Among a total of 135 offspring of affected people, 59 (43.7%) were patients with MMD or obligatory carriers. Affected mothers were more likely to produce late-onset (adult-onset or asymptomatic) female offspring (p = 0.007). CONCLUSIONS: The mode of inheritance of F-MMD is autosomal dominant with incomplete penetrance. Thus, in future genetic studies on F-MMD, parametric linkage analyses using large families with an autosomal dominant mode of inheritance are recommended. Genomic imprinting may be associated with the disease.

Adolescent↗
PubMedDate not supplied

Inheritance pattern of RAPD markers in Melipona quadrifasciata (Hymenoptera: Apidae, Meliponinae).

Melipona quadrifasciata is an important pollinator agent in several regions of Brazil. Data concerning the genetics of this species are scarce in the literature. In this work we used the random amplified polymorphic DNA (RAPD) technique to determine the degree of polymorphism and the inheritance pattern of these molecular markers in this species. Our ultimate goal is to establish tools to be used in the study of the genomic organization of M. quadrifasciata. Genomic DNA from progenies F(1) and BC(1) were assayed with 79 different primers, yielding an average of 6.67 bands and 1.68 polymorphisms per primer. Three types of polymorphisms were detected: band presence/absence, band intensity, and fragment-length polymorphisms. Most of the observed polymorphisms were band presence/absence, typical of RAPD-dominant markers. The number of observed polymorphisms and their segregation in accordance with a Mendelian proportion confirm the importance of this technique for genome analysis of species like M. quadrifasciata that are poorly studied at the genetic level.

Animals↗
PubMed1994

Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.

Nephrogenic diabetes insipidus is a rare hereditary disorder, most commonly transmitted in an X chromosome-linked recessive manner and characterized by the lack of renal response to the action of antidiuretic hormone [Arg8]vasopressin. The vasopressin type 2 receptor (V2R) has been suggested to be the gene that causes the disease, and its role in disease pathogenesis is supported by mutations within this gene in affected individuals. Using the PCR, denaturing gradient gel electrophoresis, and direct DNA sequencing, we examined the V2R gene in four unrelated kindreds. In addition, linkage analysis with chromosome Xq28 markers was done in one large Brazilian kindred with an apparent unusual X chromosome-linked dominant inheritance pattern. In one family, a mutation in codon 280, causing a Tyr-->Cys substitution in the sixth transmembrane domain of the receptor, was found. In the other three additional families with nephrogenic diabetes insipidus, the V2R-coding region was normal in sequence. In one large Brazilian kindred displaying an unusual X chromosome-linked dominant mode of inheritance, the disease-related gene was localized to the same region of the X chromosome as the V2R, but no mutations were found, thus raising the possibility that this disease is caused by a gene other than V2R.

Base Sequence↗
PubMed1994

Development of a strain of rabbits with congenital simple nonsyndromic coronal suture synostosis. Part I: Breeding demographics, inheritance pattern, and craniofacial anomalies.

The lack of an animal model of congenital coronal suture (CS) synostosis has prompted the widespread use of an experimental rabbit model using adhesive immobilization of the CS. Such postnatal models have helped make significant scientific contributions but may still not fully represent all aspects of the human congenital condition. In the March 1993 issue of The Cleft Palate-Craniofacial Journal we reported a female rabbit born in our laboratory with complete bilateral CS synostosis. This follow-up study presents our attempts to breed this animal and establish a strain of craniosynostotic rabbits. To date, we have accomplished 10 back- and intercrosses with these animals and have produced a total of 71 live offspring; 10 animals exhibited complete nonsyndromic unilateral (plagiocephalic) or bilateral (brachycephalic) CS synostotic deformities at birth, and 19 animals exhibited partial CS synostosis that showed more than 75% growth retardation across the CS (well below the 95% confidence interval for normals). Results revealed that gestational time and litter size averages were consistent with those reported for the strain, although the average litter size decreased with increased inbreeding. By 1.5 weeks of age the completely synostosed animals already exhibited brachycephalic cranial vaults and midfacial hypoplasia compared to unaffected siblings. Initial pedigree analysis suggested an autosomal dominant inheritance pattern with incomplete penetrance and variable expressivity. The development of such a congenital rabbit model may prove useful in helping to understand the etiopathogenesis of this condition in human populations.

Animals↗
PubMedDate not supplied

Esterases in the house fly. Polymorphisms and inheritance patterns.

Polyacrylamide gel electrophoresis was used to examine the variability and inheritance of esterases in five strains of the house fly, Musca domestica L. Individual zymograms exhibited 8 to 15 bands that could be assigned to one of five zones designated as A through E from anode to cathode. Correlations of P1-F1 banding patterns indicated the existence of at least 3 different loci in zone A. 2 each in zones B and C, and 4 in zone D; no clear inheritance patterns were discernable for the bands of zone E. Only the Es-5 locus of zone C was monomorphic in all of the strains studied. Eight loci possessed null alleles and codominant alleles were detected at six loci. The results suggest that esterases should prove useful for measuring relationships among fly populations or for various studies of population dynamics.

Alleles↗