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1. |
The distribution of clinical findings in Bechterew's syndrome (ankylosing spondylitis) suggests distinct genetic subgroups |
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Clinical Genetics,
Volume 22,
Issue 4,
1982,
Page 151-159
Pål Møller,
Odd Vinje,
Erik Kåss,
Kåre Berg,
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摘要:
One hundred and twenty‐two consecutive patients hospitalized for ankylosing spondylitis (AS) were reexamined. The frequency of clinical signs and results of tests for associations are presented. Psoriasis was associated with a distal pattern of peripheral arthropathy. Spinal rigidity was predominantly seen in males. Males with phalangeal arthropathy exhibited preserved spinal mobility. This was the case also when HLA B27 positives and patients who did not have psoriasis were considered separately. HLA B27 positive patients in this group had frequently experienced acute anterior uveitis. It seems possible that the disease in such males is the result of combined predisposition to ankylosing spondylitis and psoriatic arthropathy. Hip arthropathy was frequently present in males with spinal rigidity. The associations observed confirm that AS is a heterogenous group of diseases. The term “syndrome” may be suitable for such a heterogenous group, and we prefer the term “Bechterew's syndrome” as the name of this group. When these new findings are added to the previous observations that acute anterior uveitis probably is a clinical, sex‐influenced characteristic of HLA B27 positive Bechterew's syndrome, that HLA B27 negative patients with Bechterew's syndrome frequently had psoriasis and were HLA B13 and B17 negative, and that psoriasis was frequent in HLA B27 positive patients as well, we tentatively conclude that different and interacting genetic mechanisms may be involved in the etiology of Bechterew
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1982.tb01428.x
出版商:Blackwell Publishing Ltd
年代:1982
数据来源: WILEY
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2. |
Copper/zinc superoxide dismutase (SOD‐1) activity in regular trisomy 21, trisomy 21 by translocation and mosaic trisomy 21 |
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Clinical Genetics,
Volume 22,
Issue 4,
1982,
Page 160-164
Anna Jeziorowska,
Lucjusz Jakubowski,
Andrzej Armatys,
Bogdan Kaluzewski,
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摘要:
Cu/Zn superoxide dismutase (SOD‐1) (E.C.1.15.1.1.) activity was estimated in children with regular trisomy 21‐Down syndrome as well as in cases of translocation and mosaic trisomy 21, as identified by the GTG, CBG and RHG banding techniques. SOD‐1 activity was found to be increased in all examined cases except trisomy 21 mosaicism. These findings provide further proof of the gene dosage theory and additional biochemical evidence for the triplicate existence of the SOD‐1 gene localized on chrom
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1982.tb01429.x
出版商:Blackwell Publishing Ltd
年代:1982
数据来源: WILEY
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3. |
Impaired degradation of chondroitin sulfate in GM2‐gangliosidosis |
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Clinical Genetics,
Volume 22,
Issue 4,
1982,
Page 165-171
Tohru Yutaka,
Tomochika Kato,
Shintaro Okada,
Hyakuji Yabuuci,
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摘要:
We have prepared a new radiolabeled substrate, derived from chondroitin 6‐sulfate oligosaccharide, for the assaying of chondroitin sulfate degradation by beta‐N‐acetylgalactosaminidase. Using this substrate, we found a striking deficiency of beta‐N‐acetylgalactosaminidase activity in the cultured skin fibroblasts of patients with Sandhoff disease and Tay‐Sachs disease. DEAE‐cellulose chromatography at pH 6.0 revealed that both isoenzymes A and B of beta‐N‐acetylgalactosaminidases from normal human liver participated in the catabolism of chondroitin 6‐sulfate. However, there were major differences in substrate specificity between isoenzym
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1982.tb01430.x
出版商:Blackwell Publishing Ltd
年代:1982
数据来源: WILEY
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4. |
Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies |
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Clinical Genetics,
Volume 22,
Issue 4,
1982,
Page 172-179
J. M. Cantú,
J. Sanchez‐Corona,
A. Hernándes,
Z. Nazará,
D. Garcfa‐Cruz,
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摘要:
The authors report four unrelated girls presenting mild mental deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non‐consanguineous parents of advanced age at their births, suggesting ade novoautosomal dominant mutatio
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1982.tb01431.x
出版商:Blackwell Publishing Ltd
年代:1982
数据来源: WILEY
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5. |
Evidence for an autosomal recessive gene regulating the persistence of the insulin response to glucose in man |
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Clinical Genetics,
Volume 22,
Issue 4,
1982,
Page 180-194
L. Iselius,
J. Lindsten,
N. E. Morton,
S. Efendiź,
E. Cerasi,
A. Haegermark,
R. Luft,
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摘要:
The significance of genetic factors for insulin release after glucose infusion was studied in 155 nuclear families of which 59 were control families and 96 had been ascertained through a parent with onset of diabetes after 30 years of age. Fasting insulin and glucose as well as three principal components of the insulin and glucose curves were submitted to path analysis and complex segregation analysis. The three principal components were considered to reflect the magnitude, the degree of response and the persistence of the curves. The genetic heritability of the insulin variables varied between 0.47–0.93 and that of the glucose variables between 0.20–0.54. There were considerable intergenerational differences in the genetic heritability for the persistence of the glucose curve and for the degree of response and persistence of the insulin curve. The cultural heritability was found to be of minor importance, while the non‐transmitted sibling environment was large. There was significant evidence for a major locus for the persistence of the insulin curve. The best fit was for a completely recessive autosomal gene with the gene frequency 0.21. The phenotype distribution of this variable showed significant kurtosis which could simulate a major locus. However, the significant evidence for such a locus remained after an analysis using partial quantitation. The diabetics were significantly different from the non‐diabetics for all the variables studied, but a complete discrimination between the diabetics and non‐diabetics could not be obtained. There was no significant difference between the children of the diabetics and non‐diabetics for any of the variab
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1982.tb01432.x
出版商:Blackwell Publishing Ltd
年代:1982
数据来源: WILEY
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6. |
Fronto‐metaphyseaI dysplasia. Further delineation of the clinical syndrome |
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Clinical Genetics,
Volume 22,
Issue 4,
1982,
Page 195-205
J. S. Fitzsimmons,
E. M. Fitzsimmons,
M. Barrow,
G. B. Gilbert,
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摘要:
Fronto‐metaphyseal dysplasia is a rare but clinically striking condition characterized by skeletal and other abnormalities. Typical clinical and radiological features of the disease were present in four individuals in the family in this report. One of these, a male, had an obstructive uropathy at birth, making this the fourth male reported with fronto‐metaphyseal dysplasia and an associated renal abnormality. In addition, he had severe congenitaI stridor associated with sub‐glottic narrowing of the trachea. His affected sister also had severe congenital stridor associated with sub‐glottic stenosis and a tracheal web. Both children had recurrent respiratory tract infection requiring frequent hospital admission. Respiratory problems have been reported in several other individuals with frontometaphyseal dysplasia and it would appear that renal and respiratory tract abnormalities are part of the syndrome. Although sex‐linked inheritance has been considered the most likely mode of transmission of the disease, the segregation and clinical severity of the condition in this family could be equally well explained on the basis of dominant inheritance with varying exp
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1982.tb01433.x
出版商:Blackwell Publishing Ltd
年代:1982
数据来源: WILEY
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7. |
Familial ectrodactyly and polydactyly: variable expressivity of one single gene ‐ embryological considerations |
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Clinical Genetics,
Volume 22,
Issue 4,
1982,
Page 206-210
N. van Regemorter,
J. Milaire,
J. Ramet,
D. Haumont,
F. Rodesch,
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摘要:
Coexistence of polydactyly and ectrodactyly in a sibship of four children is reported. One boy and one male twin presented polydactyly, the male monozygotic cotwin had a lobster claw deformity of the right foot and the last child, a girl, had absence of the phalanges of the right hand. Embryological explanation of these apparently totally opposed malformations is attempted.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1982.tb01434.x
出版商:Blackwell Publishing Ltd
年代:1982
数据来源: WILEY
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8. |
Ornithine transcarbamylase deficiency: long‐term survival |
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Clinical Genetics,
Volume 22,
Issue 4,
1982,
Page 211-214
Virginia V. Michels,
Elaine Potts,
Mackenzie Walser,
Arthur L. Beaudet,
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摘要:
A 4–1 /12‐year‐old male with complete ornithine transcarbamylase deficiency was treated with a very low protein diet supplemented with essential amino acids and keto acid analogues of essential amino acids. To our knowledge, he is the longest surviving male with complete ornithine transcarbamylase defic
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1982.tb01435.x
出版商:Blackwell Publishing Ltd
年代:1982
数据来源: WILEY
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9. |
Interstitial deletion of chromosome 21 |
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Clinical Genetics,
Volume 22,
Issue 4,
1982,
Page 215-219
N. Modi,
K. E. Buckton,
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摘要:
A case report of an infant with the karyotype 46, XX, int del (21) (q21q22) is presented, in whom the 21 deletion syndrome or “antimongolism” is well defined clinica
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1982.tb01436.x
出版商:Blackwell Publishing Ltd
年代:1982
数据来源: WILEY
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10. |
Further evidence by gene dosage for the regional assignment of erythrocyte acid phosphatase (ACPI) and malate dehydrogenase (MDHI) loci on chromosome 2p |
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Clinical Genetics,
Volume 22,
Issue 4,
1982,
Page 220-225
Linda M. Larson,
A. Wayne Bruce,
Jean H. Saumur,
Walter A. Wasdahl,
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摘要:
Quantitative studies of erythrocyte acid phosphatase (ACPI) and soluble malate dehydrogenase (MDHl), both assigned to distal chromosome 2p, were performed by colorimetric methods on the red cells of four patients in an attempt to demonstrate a gene dosage effect. The patients inherited the unbalanced form of a familial reciprocal translocation, t(2;10)(p24;q26), and had partial duplication 2p. Parents of all patients and siblings of some were included in the study. All patients had increased levels of ACPl corresponding to the presence of three structural genes. Levels of MDHl were not increased. Evidence shows that the ACPl gene is in the region 2p24–2pter and that MDH is no
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1982.tb01437.x
出版商:Blackwell Publishing Ltd
年代:1982
数据来源: WILEY
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