摘要:

A young adult female with multiple exostoses, short stature, autism, mental retardation and 46,X,t(X;8)(p22.13;q22.1) is described. Although the clinical features and translocation breakpoints raise the possibility of a number of specific conditions, the constellation of problems is not consistent with any previously reported genetic syndrome. It is argued that her clinical disorder is likely due to the chromosomal abnormality and that further detailed molecular genetic investigation may shed light on the genetic basis to various components of her phenotype including the autism.

ISSN:0955-8829    

出版商:OVID    

年代:1995

数据来源: OVID

摘要:

Nearly all previous evidence of the familial transmission of age at onset of schizophrenia has been in siblings and twins. In his paper, Bruno Schulz examined the age at onset distribution of schizophrenia in affected parent and offspring pairs, using a systematic series of ascertained cases (n= 106), as well as a second series of chronic in-patients (n= 36). The parent-offspring correlation in age at onset, for cases with a definite diagnosis in the systematically ascertained series, was estimated at 0.346 (95% confidence interval 0.134, 0.528). Schulz did not test for differences between the two series and between males and females, but our reanalysis, using correlational methods and a mixed linear model, did not detect any significant differences. These results are consistent with previous findings that age at onset of schizophrenia is influenced by familial factors which may be genetic.

ISSN:0955-8829    

出版商:OVID    

年代:1995

数据来源: OVID

摘要:

Several pieces of evidence are consistent with the involvement of dopamine neurotransmission in the aetiology of bipolar disorder. We have tested the hypothesis that the functional mutation Ser311→Cys of the dopamine D2 receptor gene confers susceptibility to bipolar disorder. There was no increased frequency of the mutation in 82 bipolar probands compared with 72 controls, showing that this mutation is not involved in the pathogenesis of (at least) the vast majority of cases of bipolar disorder. Our findings are consistent with other evidence from linkage and association studies against the involvement of the dopamine D2 receptor in bipolar disorder.

ISSN:0955-8829    

出版商:OVID    

年代:1995

数据来源: OVID

摘要:

A case of severe schizophrenia is described in a patient with chromosomal mosaicism of Klinefelter's syndrome (XXY) and trisomy 8. The literature of both syndromes is reviewed and the aetiological implications discussed.

ISSN:0955-8829    

出版商:OVID    

年代:1995

数据来源: OVID

摘要:

We have previously reported possible evidence for linkage between manic depressive illness and the locus at 16pl3.3 encoding the enzyme phosphoglycolate pbosphatase (PGP), in the larger of two Danish families. As PGP was not fully informative, 12 additional DNA markers were tested in these families to clarify if a gene involved in the etiology of manic depressive illness might be located on chromosome 16pl3. Though not reaching a lod score level of 3.0, the possible presence of a disease gene for manic depressive illness on chromosome 16p13 was still suggested. The evidence for a dominant locus near PGP was weakened. However, when assuming a recessive mode of inheritance and including both families a two-point lod score of 2.52 was found for marker D16S510, and a three-point lod score of 2.65 in both families combined and 2.29 in the large family alone was obtained in the same area. Simulations indicated that lod scores as obtained for several markers hi the large family alone, would occur only rarely with an unlinked marker.

ISSN:0955-8829    

出版商:OVID    

年代:1995

数据来源: OVID

摘要:

In the present study, five allelic fragments were typed by a polymerase chain reaction (PCR) process with a pair of primers specific for the tetranucleotide (TCAT) repeat sequence in the first intron of the human tyrosine hydroxylase (TH) gene and their sizes (bp) were 114 (A), 118 (B), 122 (C), 126 (D) and 130 (E), respectively. The AE genotypic frequency was found to be significantly higher in unrelated patients with schizophrenia than in unrelated control subjects (χ2= 4.18,p< 0.05). ANOVA revealed a significant difference between the three groups (neuroleptic-free patients possessing or not possessing the AE genotype, and unrelated control subjects) in the concentration of serum noradrenaline (F = 4.96, df = 2.79,p< 0.01), but no significant differences were found between the three groups in the concentrations of serum homovanillk acid, phenylalanine and tyrosine. These results suggest that the polymorphic intron 1 of the human TH gene may be associated with disturbances of the catecholamine pathway in schizophrenia.

ISSN:0955-8829    

出版商:OVID    

年代:1995

数据来源: OVID

摘要:

The search for complex disease genes is gaining momentum. Recent guidelines for expediting this effort, such as “intelligent” genome scanning and statistical criteria for detecting weak signals indicative of linkage, are discussed, with special reference to psychiatric disorders.

ISSN:0955-8829    

出版商:OVID    

年代:1995

数据来源: OVID