bluuebunny/crossref_metadata_2025_split huggingface dataset:
A linkage study of phenylketonuria
Authors: Berg Kare , Saugstad Letten Fegersten 
Published: July 2010

A search for linkage between phenylketonuria (PKU) and each of the following marker systems has been conducted: ABO, MN, Rh, Kell, Hp, Gc, PGM1. Previous suggestions of linkage between PKU and ABO could not be confirmed.For the PKU‐PGM1 relationship, lod score values higher than I were found for recombination fractions 0.05 and 0.10, suggesting the possibility of linkage between the two loci. However, more data are needed to settle this question.Low positive lod scores for higher values of the recombination fraction were found for the PKU‐Rh and the PKU‐Hp relationships. Low positive lod score values were also found for the PKU‐Kell relationship.
Chromosomes and human infertility. I. Mitotic and meiotic chromosome studies in 202 consecutive male patients
Authors: Koulischer Lucien , Schoysman Robert 
Published: July 2010

Mitotic and meiotic chromoqome studies in 202 consecutive infertile male patients are reported. From our results and those available from the literature, the following conclusions can be drawn. 1. Mitotic chromosome analysis definitely must be included in the laboratory investigations of male infertility; meiotic studies are recommended, especially in patients with a normal somatic karyo‐type and unexplained low sperm counts.2. About 10% of all patients attending male infertility clinics show a mitotic chromosome abnormality: 6–7% present a Klinefelter's syndrome or its variants, 1–3% have morphological rearrangements of the Y, or sex chromosome mosaicism, and 1–3% present structural autosome rearrangements (translocations, minor variants, etc.). Decreasing sperm counts are associated with an increasing probability of aneuploidy.3. At present, identified meiotic abnormalities could explain about 2% of male sterilkies in patients with apparently normal somatic chromosomes.
On the relationship between Lp(a) Iipoprotein, “sinking pre‐β‐lipoprotein” and inherited hyper‐β‐lipoproteinaemia
Authors: Heiberg Arvid , Berg Kåre 
Published: July 2010

The presence of extra pre‐β‐lipoprotein bands on lipoprotein electrophoretograms has recently been implicated by different workers as a major risk factor in coronary heart disease. We observed such “sinking pre‐β‐lipoprotein” in members of three kindreds which were being studied because of hyper‐β‐lipoproteinaemia with xanthomatosis and coronary heart disease (type IIa hyperlipoproteinaemia). The hyper‐β‐lipoproteinaemia, Lp(a) antigen and extra lipoprotein band segregated in an autosomal dominant fashion in these families. Electrophoretic and immunologic studies confirmed the identity of “sinking pre‐β‐lipoprotein” with the Lp(a) lipoprotein. Presence of “sinking pre‐β‐lipoprotein” reflects high concentration of the Lp(a) lipoprotein. Close genetic linkage between hyper‐β‐lipoproteinaemia and the Lp trait was excluded.Thus, the present data speak against linkage as well as association between hyper‐β‐lipoproteinaemia as it occurs in the three kindreds and the Lp trait. If the possilble association of Lp(d) lipoprotein with coronary heart diease, as suggested by studies of other workers, is confirmed, the data from the present family study may suggest that the majority of cases of coronary heart disease are genetically distinct from hyper‐β‐lipoproteinaemia of type IIa.
Cerebellar ataxia and total albinism: A kindred suggesting pleiotropism or linkage
Authors: Skre H. , Berg K. 
Published: July 2010

In a sibship occurring in a kindred with a high degree of inbreeding, four persons with an auto‐somal recessive type of cerebellar ataxia all had total albinism (tyrosinase‐negative, as judged from investigation of the prohand). Of the five healthy sibs, all had normal pigmentation.Relatively close genetic linkage between the loci for total albinism and this variant of cerebellar ataxia appears to be a more likely interpretation of the observed distribution than is the possibility of a pleiotropic effect of one mutant gene. However, the linkage scores for this sibship are not sufficiently high to formally prove the existence of linkage, the lod score for a recombination fraction of 0 being 2.4. The case for linkage is not significantly weakened if it is postulated that the phenotype of a paternal aunt who has total albinism hut no neurological disorder reflects one recombinant event, but absolute linkage would then be excluded.It is necessary to consider the possibility of close linkage, whenever concurrence of otherwise. distinct genetic disorders is observed in one or in a very low number of families, suggesting a “new syndrome”. If the observation in the pedigree studied reflects true linkage between total albinism and cerebellar ataxia, linkage studies with respect to hemoglobin variants are called for in families where these anomalies occur, since non‐α‐hemoglobin loci are linked to albinism in certain other species and there is good reason to believe that there has been a high degree of conservatism in chromosomal evolution.
The heritability of serum lipoprotein and lipid concentrations. A twin study
Authors: Heiberg Arvid 
Published: July 2010

The genetic influence on serum lipid and lipoprotein levels was estimated in twins. Twin zygosity was confirmed by analysis of at least 19 genetic marker systems in each twin. Fifty pairs of randomly selected, healthy, normolipidemic twins, 18 to 24 years of age, were studied.Significant differences were found between the inter‐ and intrapair variances for all lipid and lipoprotein parameters in the monozygous twins, and for most values in dizygous twins. The intrapair variances of all lipid and lipoprotein parameters tested were smaller in MZ than DZ twins, and significant differences were found for cholesterol, phospholipids, total lipids, pre‐β‐ and α‐lipoproteins.H statistics, intraclass correlations and the F ratios all point to a high, but somewhat varying degree of genetic influence on the levels of all serum lipid and lipoprotein concentrations investigated, the genetic effect being particulary pronounced for cholesterol and total lipids.
A new form of hereditary short limbed dwarf ism with microcephalus
Authors: Juberg Richard C. , Ness Madge B. Van 
Published: July 2010

Siblings, one female and one male, were each born approximately 1 month prematurely and showed microcephalus, shortness, and short limbs plus a receding forehead and one peculiarly positioned small toe. Each failed to thrive, and neither made any developmental progress beyond the newborn status. Each exhibited a similar leukemoid reaction, and one died of respiratory infection at 3 months, the other of seizures and central nervous system infection at 5 months.At autopsy, each had a small brain, hydrocephalus, and bony anomaly of the cranium, the one of the posterior fossa and the other of the foramen magnum; in addition, one had absence of the corpus callosum. The long bones were considered atypical of chondro‐dystrophy.The combination of mildly shortened bones of the extremities, moderately anomalous ribs, and slightly flattened vertebrae with microcrania does not resemble any of the previously recognized forms of short limbed dwarfism.We propose determination by a single, rare, autosomal recessive gene. The parents had greatly different ancestry and their apparent heterozygosity for such a gene made their mating particularly unusual.
Plasma lipoprotein abnormalities in a case of primary high‐density‐lipoprotein (HDL) deficiency
Authors: Utermann G. , Menzel H. J. , Schoenborn W. 
Published: July 2010

A 53‐year‐old patient with primary HDL‐deficiency is reported. About 2% of the normal concentration of alpha1 HDL was present in his plasma. The alphal‐high‐density‐lipopro‐teins separated into two fast‐moving components in polyacrylamide gel electrophoresis. The Apo HDL contained both the main apolipoproteins, Apo A‐I and Apo A‐II, but in dis‐proportionally reduced amounts, the concentration of Apo A‐I being reduced about 360‐fold, and that of Apo A‐II about 14‐fold. Concomitantly, the amount of the Apo C polypeptides in the HDL‐fractions was decreased to about 5.5% and the activity of the enzyme lecithin cholesterol acyltransferase (EC 2.3.1.4.3) in plasma was found to be only 40% of normal. Apoprotein D was present in the LDL in association with Apo B, forming an abnormal, fast‐moving LDL‐complex.Apo A‐I and Apo A‐II were both of normal size as determined by SDS‐PAGE, and reduction with thiols resulted in the shift of the M.W. of Apo A‐II from 17,000 daltons to about 8,500 daltons. Both proteins were found in the same position as their normal counterparts in analytical isoelectric focusing.The most likely explanation for the multiple lipoprotein abnormalities seems to be that a defect in the regulation or structure of Apo A‐I is the basis of the HDL‐deficiency.
Dominant ichthyosis vulgaris with an ultrastructuraally normal granular layer
Authors: Fitch Naomi , Segool Richard , Ferenczy Alex , Cohen Howard 
Published: July 2010

It has been suggested that ultrastructural studies of keratohyalin granules in the granular layer of the skin can clearly distinguish the dominant type from the X‐linked recessive type of ichthyosis vulgaris. The distinctive features are found in the granular layer and the keratohyalin granules. In the dominant form the granular layer is absent or reduced in size and the keratohyalin granules are minute and crumbly in appearance. In the recessive form the granular layer and keratohyalin granules are normal.A family which probably has dominant ichthyosis vulgaris is described. The stratum granulosum and keratohyalin granules as determined by both light and electron microscopy are normal. In view of the inconstant morphologic appearance of the stratum granulosum in ichthyosis vulgaris, it is suggested that distinction between the dominant and X‐linked forms should not be based on the structural characteristics of the granular layer alone, but rather on a combined evaluation of the pedigree, clinical features and the appearance of the stratum granulosum.
45, XO/46, XYq dic mosaicism in a patient with ambiguous genitalia
Authors: Tuncbilek Ergul , Halicioglu Charlotte , Bobrow Martin , Ustay Kemal 
Published: July 2010

45, XO/46, XYq dic mosaicism was found in a patient with ambiguous genitalia. The patient had dysgenetic testis and gonadoblastoma.The same mosaicism was found in skin and gonadal tissue cultured fibroblasts. Localization of the genes related to height and male determination is discussed.
Lp(a) Lipoprotein/pre‐β1‐lipoprotein, serum lipids and atherosclerotic disease
Authors: DAHLEN G. , BERG K. , FRICK M. H. 
Published: July 2010

With appropriate electrophoretic techniques and fresh serum samples, the Lp(a) lipo‐protein/pre‐β1‐lipoprotein is demonstrable as a distinct zone in the area between β1‐lipo‐protein and ordinary pre‐β1‐lipoprotein, when sera which are strongly positive with respect to the Lp(a) antigen are analyzed. The Lp(a) lipoprotein is a genetically determined normal serum component.The phenotype Lp(a+) was found significantly more frequently in two series of patients with coronary heart disease (CHD) than in appropriate controls. The frequency difference between patients and controls was particularly pronounced for the Finnish samples studied, 55 % of the patients having the phenotype Lp(a +), as opposed to only 31 % of the healthy controls. As judged from electrophoresis strips, high concentrations of Lp(a) lipo‐protein/pre‐β1‐lipoprotein were positively correlated with coronary score as determined by angiography. This correlation was highly significant.Total serum cholesterol value was slightly higher in Lp(a +) than in Lp(a‐) persons from two of the four population samples studied, but no statistically significant difference was found. Serum triglyceride levels exhibited a statistically insignificant trend towards higher values in Lp(a‐) than in Lp(a+) individuals, in three of the four samples tested.The strong association between the phenotype Lp(a+) and CHD, as well as the correlation between high amounts of Lp(a) lipoprotein/pre‐β1‐lipoprotein and coronary score on one hand, and the weak correlation between presence of Lp(a) lipoprotein/pre‐β1‐lipoprotein and lipid values on the other, make it highly unlikely that the increased frequency of the Lp(a+) phenotype in CHD patients merely reflects an over‐all increase of the intravascular pool of LDL and/or VLDL reflected in increased serum levels of cholesterol and/or triglycerides. By the same token, it is unlikely that the insignificant effect on lipid values can, on its own, explain the correlation between Lp(a) phenotype and CHD.
The distribution of the third complement component and other polymorphic traits in rheumatoid arthritis
Authors: Harada Shoji , Mano Kenji , Miyamoto Terumasa , Horiuchi Yoshihiko , Ohhata Nobuko , Misawa Shogo 
Published: July 2010

The distribution of C'3 phenotypes in 61 seropositive rheumatoid arthritis patients and 464 normal blood donors in Tokyo was examined by high‐voltage agarose gel electro‐phoresis. The allele of the common European variant, C3F, is absent in Japanese, but another F allele, C3Frare, is present with a frequency of 0.025 and 0.013 in RA patients and blood donors, respectively; the difference is not statistically significant.The distribution of phenotypes for several other enzyme systems was also determined in an attempt to detect association with RA. Again, no statistically significant differences were found.
Bloom's syndrome in two Dutch families
Authors: Hustinx T. W. J. , Haar B. G. A. Ter , Scheres J. M. J. C. , Rutten F. J. , Weemaes C. M. R. , Hoppe R. L. E. , Janssen A. H. 
Published: July 2010

The clinical and cytogenetic data are presented of four children with Bloom's syndrome, who belong to two unrelated Dutch families. The patients showed, in varying degrees, the clinical features most characteristic of the syndrome: stunted growth; telangiectatic facial erythema; sun‐sensitivity of the skin; and decreased immuno‐competence. In one child the skin lesions were only minor and the diagnosis would probably not have been made if her sib had not been recognized as having Bloom's syndrome.The cytogenetic characteristics of the syndrome were present in all patients. Each showed a high number of chromosomal aberrations and numerous sister‐chromatid exchanges per cell.
Cystic fibrosis: Evidence for a genetic compound from a family study in cell culture
Authors: Danes B. Shannon , Hodson Margaret E. , Batten J. 
Published: July 2010

Although the majority of patients with cystic fibrosis (CF) show a typical clinical course, a minority with the same clinical phenotype at the time of initial diagnosis have an atypical (mild) course.Skin fibroblast cultures were established from 49 members of the family of one such atypical CF adult patient, previously identified (Danes et al. 1976) as CF Class II (ametachromatic and no metabolic cooperation with CF Class I fibroblasts), the offspring of Class I (metachromatic, metabolic cooperation with normal fibroblasts)/Class II mating. The culture phenotype for Class I was traced on the maternal side and for Class II on the paternal side through consecutive generations and the culture phenotype of each class segregated.This family study added experimental evidence to support the hypothesis that the atypical (mild) clinical features and course of this adult CF patient were due to two different CF genes combining to produce a genetic compound expressing a mild form of CF.
Heterogeneity in maple syrup urine disease: Aspects of cofactor requirement and complementation in cultured fibroblasts
Authors: Singh Surjit , Willers Ingrid , Goedde H. Werner 
Published: July 2010

Fibroblast strains derived from six patients with maple syrup urine disease have been investigated for their requirements of the cofactors NAD, CoASH, Mg++ and TPP in comparison with 10 normal control strains. The reconstitution of the decarboxylase function of branched chain α‐keto acid (BCKA) dehydrogenase complex in lysed cells was studied with respect to the substrates u‐keto‐isocaproic acid, α‐keto‐isovaleric acid, and α‐keto‐β‐methylvaleric acid (KIC, KIVA, MEVA). The enzyme activity of all normal control strains for the substrates KIC and KIVA was not reconstituted by TPP + Mg++ alone, but CoASH + NAD could reconstitute the enzyme activity with KIC and KIVA in different degrees. Only two control strains were tested with MEVA as substrate, and these showed in contrast that TPP + Mg++ could partly reconstitute the enzyme activity. In contrast to the relative homogeneiy in the reconstitution profiles of normal strains, the five classical and one intermittent MSUD strains showed heterogeneity in cofactor requirements.Complementation analysis using heterokaryons prepared from fibroblasts of four patients with classical MSUD and one patient with intermittent MSUD showed, in contrast to experiments with normal controls, a partial amelioration of the defect in two combinations; it is suggested that the defect in these strains is located at different functional subunits of the multienzyme complex.
The acrocephalosyndactyly syndromes: A metacarpophalangeal pattern profile analysis
Authors: Escobar Victor , Bixler David 
Published: July 2010

Metacarpophalangeal pattern profile (MCPP) analysis was applied to patients with Pfeiffer and Chotzen syndromes, dominantly inherited types of acrocephalosyndactyly (ACS). A characteristic MCPP was obtained for the group. However, it did not discriminate between patients with Chotzen syndrome and those with Pfeiffer syndrome.Six patients in a single family showing Pfeiffer syndrome exhibited this unique MCPP profile which was not present in non‐affected family members. Furthermore, three normal‐appearing relatives were identified as affected by this technique, and this diagnosis was subsequently confirmed by radiographic and genetic data. The results show that: 1) the MCPP in Pfeiffer and Chotzen syndromes is unique and can be used to make the diagnosis of an ACS syndrome in persons who show few or no clinical stigmata of disease; 2) the MCPP does not discriminate between these two ACS types.
Cystic fibrosis: Cell culture classes in a Danish population
Authors: Danes B. Shannon , Beck B. , Flensborg E. Winge 
Published: July 2010

The cystic fibrosis (CF) culture phenotype of dermal fibroblasts (metachromasia, metabolic cooperation) of a group of 131 Danish CF patients and their families were studied to determine the distribution of the two CF culture classes and their prognostic significance.Of these, 62.6 % (82) were Class I, 31.3 % (41) Class II and 6.1 % (8) were proposed to be genetic compounds. The occurrence of Class II was twice that found in a group of patients from New York (13 %) and Minnesota (18 %).The prognosis for Class II CF patients was considered to be poorer as: (1) The initial diagnosis was made earlier in Class II than in Class I or the compounds (63 % of Class II were diagnosed in the first year of life, as compared to 35 % in Class I and 13 % of the compounds). (2) Only 5 % of the Class II patients survived over the age of 15 years, both being deceased at the end of the study in 1976, whereas 24 % of Class I and 63 % of the compounds were over 15 years at the end of the study. This research added further evidence for genetic heterogeneity within the clinical syndrome, cystic fibrosis.
Radiographic lung density assessed by computed tomography is associated with extravascular lung water content
Authors: KUZKOV V. V. , SUBOROV E. V. , KIROV M. Y. , WÆRHAUG K. , MORTENSEN R. , KUKLIN V. N. , NORDHUS K. C. , BJERTNÆS L. J. 
Published: July 2010

Background: We hypothesized that in acute lung injury (ALI), the volume of pulmonary tissue with aqueous density, as determined by spiral computed tomography (CT), is associated with extravascular lung water content. Our aim was to compare tissue volume index, as assessed by CT, before and after oleic acid‐induced ALI, with extravascular lung water indexes (EVLWI), determined with single transpulmonary thermodilution (EVLWISTD), thermal‐dye dilution (EVLWITDD), and postmortem gravimetry (EVLWIG).Methods: Seven instrumented sheep received an intravenous infusion of oleic acid 0.08 ml/kg (OA group) and four animals had vehicle only (Control group). The day before, and immediately after the experiment, sheep were anesthetized to undergo quantitative CT examinations during a short breath hold. Hemodynamics, oxygenation, EVLWISTD, and EVLWTDD were registered. Linear regression analysis was used to assess the relationships between EVLWISTD, EVLWTDD, EVLWIG, and lung tissue volume index (TVICT) determined with CT.Results: In the OA group, total lung volume increased compared with Controls. Poorly and non‐aerated lung volumes increased a 3.6‐ and 4.9‐fold, respectively, and TVICT almost doubled. EVLWISTD, EVLWITDD, and TVICT were associated significantly with EVLWIG (r=0.85, 0.90, and 0.88, respectively; P<0.001). TVICT deviated from the reference EVLWIG values to the greatest extent with a mean bias ± 2SD of 4.0 ± 6.0 ml/kg.Conclusions: In ovine oleic acid‐induced ALI, lung tissue volume, as assessed by quantitative CT, is in close agreement with EVLWI, as determined by indicator dilution methods and postmortem gravimetry, but overestimates lung fluid content.
Identification, inheritance and gene mapping of resistance to a virulent Soybean mosaic virus strain SC15 in soybean
Authors: Yang Q. H. , Gai J. Y. 
Published: July 2010

With 1 figure and 3 tables Abstract Soybean mosaic virus (SMV) is one of the major pathogens for soybeans worldwide. Among the 21 strains identified under uniform identification system in China, SC15 can infect all 10 of the differentials, is the most virulent strain and has been prevalent especially in Southern China. In this study, 10 elite accessions resistant to SC15 were identified from 205 soybean lines. P1, P2, F1, F2 and 200 recombinant inbred lines (RIL) of the cross ‘RN‐9’ (resistant, R) ×‘7605’ (susceptible, S) were used to study inheritance of resistance to SC15. F1 was identical to ‘RN‐9’, F2 segregated in a 3R : 1S phenotypic ratio, whereas RILs segregated in a 1R : 1S genotypic ratio. This indicated that a single dominant gene, designated as RSC15, conferred the resistance. A genetic linkage map of a segment of C2 linkage group was constructed using SSR markers identified by bulked segregant analysis of RIL population, where RSC15 was mapped between Sat_213 and Sat_286 with distances of 8.0 and 6.6 cM to the respective flanking markers.