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Biomedical subjects

R S Sparkes

Publications and source records attributed to R S Sparkes.

At least 199 records · Page 11Linked to original sources
PubMed1984

Hereditary multiple exostoses. Report of a family.

In a family with hereditary multiple exostoses (diaphyseal aclasis), six generations are known to have been affected. Thirty-three of 85 family members have had the disorder. This condition affects the long bones, pelvis, scapulae, and ribs, and the exostoses continue to enlarge until epiphyseal fusion occurs. Associated deformities, including short stature and malformations of the wrist and ankle, were found in 72%. Fifty percent of affected individuals were moderately or severely handicapped; women and men were affected with equal severity. Exostoses were usually noted by two years and always by five years of age. Hereditary multiple exostoses is inherited as an autosomal dominant condition and is inherited as an autosomal dominant condition and in this familial study the gene showed 93% penetrance. Only one individual appeared clinically normal but nevertheless transmitted the gene to offspring. Red cell antigens, enzymes, and serum enzymes were studied, but none were positive for linkage to the gene for this disease. The frequency of sarcomatous change varies between 3% and 25% in reports in the literature, but no cases occurred in six generations of this family.

Adolescent↗
PubMed1984

The steroid sulfatase locus on structurally abnormal inactive X chromosomes is expressed.

In mammalian somatic cells, sex-chromosome dosage compensation is achieved by random inactivation of one of the two X chromosomes. The Xg blood group antigen (Xg) and steroid sulfatase (STS) loci on the distal end of the short arm of the X chromosome have been shown to escape this inactivation. However, it has been reported that on structurally abnormal inactive X chromosomes Xg and STS are inactivated. This discrepancy requires further consideration since whatever process accounts for the lack of inactivation of these loci on structurally normal, inactive X chromosomes might be anticipated to be operative on structurally abnormal, inactive X chromosomes. To investigate this issue, we examined the expression of STS activity in mouse-human somatic-cell hybrids retaining two different, deleted, inactive human X chromosomes. These studies provide evidence for lack of inactivation of STS on structurally abnormal, inactive X chromosomes.

Animals↗
PubMed1983

Patient with 13 chromosome deletion: evidence that the retinoblastoma gene is a recessive cancer gene.

Although a constitutional chromosomal deletion including 13q14 has been found to date in all retinoblastoma patients whose esterase D activity is 50 percent of normal, one female patient has been found who has 50 percent esterase D activity in all normal cells examined but no deletion of 13q14 at the 550-band level. Therefore, she has the smallest constitutional chromosomal deletion within 13q14 that is associated with susceptibility to retinoblastoma. Two stem lines were identified in a retinoblastoma from this patient, and each one had a missing 13 chromosome. No detectable esterase D activity was found in the tumor, indicating that the normal nondeleted 13 chromosome was lost in both stem lines. Thus the data from this patient not only show that there is a total loss of genetic information at the location of the retinoblastoma gene within the tumor, but also imply that recessive genes may play an important role in the development of certain human tumors including retinoblastoma.

Child, Preschool↗
PubMed1983

Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D.

Evaluation of three families with hereditary retinoblastoma demonstrates close linkage of the gene for this tumor with the genetic locus for esterase D. These results assign the gene for the hereditary form of retinoblastoma to band q14 on chromosome 13, the same region which is affected in the chromosome deletion form of this eye tumor, and therefore suggest a common underlying mechanism in the pathogenesis of these two forms of retinoblastoma.

Chromosome Deletion↗
PubMed1983

Association studies between Type 1 (insulin-dependent) diabetes and 27 genetic markers: lack of association between Type 1 diabetes and Kidd blood group.

One hundred and three unrelated patients with Type 1 (insulin-dependent) diabetes were typed for HLA, properdin factor B (BF), glyoxalase 1 (GLO), Kidd blood group, and 24 other genetic markers. Observed distributions of marker phenotypes among these patients were compared with those expected according to population frequencies, in an attempt to detect associations between Type 1 diabetes and the markers. Strong associations between Type 1 diabetes and both HLA and properdin factor B were confirmed, as was a lack of association between Type 1 diabetes and glyoxalase (GLO). There was an apparent deviation from Hardy-Weinberg equilibrium at the GLO locus, and statistically significant distortions in the distributions of pancreatic amylase (AMY2), galactose-1-phosphate uridyl transferase (GALT), and group-specific component (GC) among Type 1 diabetes patients, but these results are not significant when corrected for performance of multiple tests. An increase in the Lewis-negative phenotype reported elsewhere was observed here but was not statistically significant. A distortion in the distribution of Kidd types reported elsewhere was not confirmed.

Blood Group Antigens↗
PubMed1983

Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22.

The gene for superoxide dismutase-1 (SOD-1) is clearly on chromosome 21, although there is disagreement on the precise band location of SOD-1 on the long (q) arm of number 21. We report a patient with normal superoxide dismutase-1 (SOD-1) activity and an interstitial deletion of chromosome 21 resulting in monosomy for band q21. His phenotype is characterized by moderate mental retardation, a long narrow face, high and arched palate, cardiac murmur, undescended testes, and long hyperflexible extremities. The normal SOD-1 activity supports localization of this enzyme to 21q22.1.

Adolescent↗
PubMed1983

Genetic linkage analysis in a high-risk cancer family: HLA and 24 other markers.

Family Pi is a high-risk cancer family in which more than 40% of the members of two generations have had cancer, mostly breast, endometrial, and gastrointestinal. An analysis of over 30 polymorphic genetic markers for possible genetic linkage to a gene increasing susceptibility to cancer revealed positive LOD scores to markers within or near the major histocompatibility complex [HLA-A,B (0.639), properdin B (Bf) (0.162), glyoxylase-1 (GLO-1) (0.166)] as well as to acid phosphatas (0.566) and MNSs (0.449). While no LOD score is statistically significant in the linkage analyses of this family alone, the data are compatible with the hypothesis that a cancer-susceptibility gene(s) (CSG) may be located on chromosome 6p, 2p, or 4q. Analyses of additional families with a similar cancer syndrome are warranted to resolve this ambiquity.

Adult↗
PubMed1983

Chromosomal abnormalities of a mediastinal embryonal cell carcinoma in a patient with 47,XXY Klinefelter syndrome: evidence for the premeiotic origin of a germ cell tumor.

Trypsin-Giemsa banding studies were performed on 30 tumor cells from an embryonal cell carcinoma originating in the mediastinum of an 18-year-old male with the Klinefelter syndrome (47,XXY). All tumor cells revealed an XXY chromosomal pattern with the addition of extra chromosomes. Electrophoretic patterns of the patient's red blood cells and tumor cells were identical. These data suggest that this germ cell tumor originated from a primordial germ cell in which oncogenesis had occurred prior to meiotic division.

Adolescent↗
PubMed1983

Y chromosome length related to fetal loss.

The Y/20 ratio (length of Y chromosome/length of chromosome 20) was examined among 216 males, 108 of whose wives had a history of repeated abortions (study group), and 108 who were mentally retarded (controls). There was no significant difference in frequency of long Y (Y/20 equal to or greater than 1) between the study group and controls. Also, there was the expected male: female ratio among normal living children of couples in the study group, and the Y/20 ratio was not significantly increased among fathers with abnormal male offspring. However, wives of long Y males were more likely to have at least one abnormal male birth, compared with other wives (this approached statistical significance, p less than 0.08). In addition, a significantly higher frequency of long Y was found in a subset of affected males whose wives had 2 or more spontaneous abortions plus some other abnormal pregnancy outcome. Although the findings reported here do not strongly support a causal relationship, they at least suggest an association between long Y chromosome and abnormal fetal development.

Abortion, Habitual↗
PubMed1983

High resolution chromosome banding in the Rubinstein-Taybi syndrome.

We studied eight cases of the Rubinstein-Taybi syndrome to determine if a detectable chromosome change is associated with this syndrome. High resolution G-banded analysis of prometaphase chromosomes was carried out on venous blood with two to four karyotypes analyzed for each patient. Initial study of two patients suggested an abnormality in chromosome 15q, but blinded analysis and review of the karyotypes proved to be normal. Therefore, all eight patients had normal G-banded prometaphase chromosome studies. Because of technical difficulties and observer bias, we urge caution in using high resolution chromosome studies to screen whole karyotypes for suspected abnormalities.

Abnormalities, Multiple↗
PubMed1983

Linkage analysis of neurofibromatosis (von Recklinghausen disease).

Linkage analysis of 28 genetic markers was undertaken in 108 subjects from 11 families with well-documented, classic, peripheral neurofibromatosis. Fifty-four persons were affected in one four-generation family, seven three-generation families, and three two-generation families. Lod scores were calculated using the standard LIPED programme for 49 combinations of theta male and theta female from 0.01 to 0.50. Lod scores excluded close linkage with 16 markers, including most tested on chromosome 1 and HLA on chromosome 6, and were inconclusive for 12 markers, including the secretor locus, closely linked to myotonic dystrophy. Analysis of five informative families resulted in a lod score of +2.2 for close linkage with GC on chromosome 4. However, the lod score for GC in the one additional informative family was negative, so that the final interpolated maximum was Z = 0.89 for theta male = 0.03, theta female = 0.28. Further studies are needed to evaluate this suggestion of linkage and possible genetic heterogeneity.

Carrier Proteins↗
PubMed1983

The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis.

Human phosphoserine phosphatase (E.C. 3.1.3.3) (PSP), a phosphohydrolase, participates in the biosynthesis of serine from carbohydrates (Moro-Furlani et al., 1980). Starch gel electrophoresis has identified isoenzymes and rare allelic variants. More common electrophoretic variation is thought to be due to secondary nongenetic modification. Using starch gel electrophoresis of interspecific somatic cell hybrids, we have been able to assign the gene for this enzyme to human chromosome 7.

Animals↗
PubMed1983

Genetic linkage studies with cleft lip and palate: report of two family studies.

Genetic linkage studies are reported on two families with cleft lip +/- cleft palate. For the first family (LP01) the etiology of the clefting is unknown, and the linkage analyses were done assuming both autosomal dominant and autosomal recessive inheritance. Close linkage is rejected with the Duffy blood group under the dominant model and with four loci (Duffy, Kidd, and ABO blood groups and haptoglobin) under the recessive model. The second family (LP02) is a Mexican-American family segregating the van der Woude syndrome with lip pits. The linkage analyses for this autosomal dominant trait excluded close linkage with seven genetic markers, including three on chromosome one. The maximum lod scores were 0.6 with BF (chromosome 6) and 0.4 with the P blood group, which is not yet mapped.

Cleft Lip↗
PubMed1983

The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two-locus models, and genetic heterogeneity.

One hundred families with insulin-dependent diabetes mellitus (IDDM) were analyzed for linkage with 27 genetic markers, including HLA, properdin factor B (BF), and glyoxalase 1(GLO) on chromosome 6, and Kidd blood group (Jk) on chromosome 2. The linkage analyses were performed under several different genetic models. An approximate correction for two-locus linkage analysis was developed and applied to four markers. Two different heterogeneity tests were implemented and applied to all the markers. One, the Predivided-Sample Test, utilizes various criteria thought to be relevant to genetic heterogeneity in IDDM. The other, the Admixture Test, looks for heterogeneity without specifying a prior how the sample should be divided. Results continued to support linkage of IDDM with three chromosome 6 markers: HLA, BF, and GLO. The total lod score for Kidd blood group, under the recessive model with 20% penetrance, is 1.63--down 1.2 from the 2.83 reported by us earlier. The only other marker whose lod score exceeded 1.0 under any model was pancreatic amylase (AMY2). The two-locus correction, which involved lowering the penetrance values used in the analysis, affected estimates of theta (recombination fraction) but did not markedly change the lod scores themselves. There was little evidence for heterogeneity within any of the lod scores, under either the Predivided-Sample Test or the Admixture Test.

Adult↗
PubMed1983

Trisomy 20p due to a paternal reciprocal translocation.

A mentally retarded boy with multiple malformations was found to have trisomy for the distal two-thirds of the short arm of chromosome 20 (trisomy 20p), resulting from a paternal translocation (5;20)(p15;p11). The patient had a cleft palate, a feature not present in other trisomy 20p patients. A review of the reported trisomy 20p patients indicates that their varied features do no constitute a readily recognizable clinical syndrome.

Abnormalities, Multiple↗