摘要:

Conflicting reports on the association between platelet MAO activity and schizophrenia prompted a critical review and determinations on identical samples at one laboratory in Sweden and one in the USA. Samples originated from eight schizophrenics and 27 relatives belonging to a large pedigree, thus ensuring biological homogeneity.In the USA laboratory, a significantly lower MAO activity was found in the schizophrenics when benzylamine or β–phenylethylamine was used as substrate (but not with trypt–amine), while a similar result was obtained in the Swedish laboratory when tryptamine was used (but not with benzylamine or (β–phenylethylamine). Comparisons between materials examined in different laboratories do not seem meaningful until differences in methodologies have been clarified. At present there is neither proof nor disproof of MAO being a “genetic marker” for vulnerability to the schizophren

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01737.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A path analysis of published reports on family resemblance reveals an important role for genetic factors in all lipids and lipoproteins, with no evidence of a discrepancy between twins and other relatives (which might be due to dominance or epistasis) nor between studies which used enrivonmental indices and those which did not.Family environment within population is less important and is significantly greater for twins than for other relatives.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01738.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A survey of 8,084 adult Saudi male employment applicants yielded 872 with the sickle cell trait (AS) and 51 with sickle cell disease. Based on the known distribution of hemoglobin S genes between oasis and non–oasis populations in Saudi Arabia, and on calculation of the expected number of abnormal homozygotes within the non–oasis and oasis subgroups as well as the entire employment applicant group, it appears that virtually 100 % of Saudis with SS disease survive to adult life. Saudi Arabs and other Caucasian populations in the Middle East exhibit a benign type of SS disease as compared with Blacks in Africa and the Americas. In the Middle East, gene contributions from SS individuals will shift equilibrium frequencies to higher levels than encountered in Black populations under sustained selective pressures, and the polymorphism will tend to be stable with decline in selective pressure. There are some indications that the hemoglobin S gene may have been a recent import into the Middle E

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01739.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Serum ceruloplasmin values of<21.0 mg/100 ml in males or<23.0 mg/100 ml in females were observed in 14 out of 156 otherwise healthy members of a pedigree. The hypoceruloplasminemia segregated in a fashion suggesting that the affected individuals are heterozygous for a mutant gene that results in hypoceruloplasminemia. This mutant gene could be a Wilson's disease gene, but excessive copper loading was absent. It is suggested that hereditary hypoceruloplasminemia may be a benign entity distinct from Wilson's disease.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01740.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Publications involving patients with any abnormality of chromosome 8 have been reviewed in detail. For the time period involved, a total of 277 cases were found, including 74 instances of congenital aneuploidy, 130 instances of acquired aneuploidy, 38 instances of congenital rearrangements, and 35 instances of acquired rearrangements. A total of 170 cases of neoplastic and hematologic disorders were included; three were associated with congenital aneuploidy, two with congenital rearrangements, and the remaining 165 with acquired aberrations. The specific disorders ranged from sideroblastic anemia through chronic and acute leukemia to solid tumors. There appears to be a definite, though nonspecific correlation between congenital or acquired chromosome 8 abnormalities and the development of certain types of neoplastic growth.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01741.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

We have identified trisomy 13 in two additional patients with hematologic malignancies involving the hematopoietic stem cell: a 75–year–old female with acute myelocytic leukemia and a 64–year–old female with agnogenic myelofibrosis and myeloid metaplasia. Chromosome analysis of the direct bone–marrow preparation showed 100 % of cells with trisomy 13 in the first and 10 % of cells in the second. We also previously reported a patient with Phi negative chronic myelogenous leukemia in whom 100 % of the marrow cells showed an identical trisomy. The probability of finding three such patients in our case material was calculated to be 0.05–0.08, implying that trisomy 13 may be another nonrandom chromosomal aberration associated with malignancies of hematopoietic pluri–pot

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01742.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

This report compares the pathogenetic influences of selective deletion and triplication of chromosome 13 derived from a familial 12; 13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46, XY, del (13) (pter → q12.5::q22.→qter)mat], and in his sister the relatively modest effects of triplication of the mid–portions of 13q are demonstrated [46, XX, ins(12;13) (12pter→–12pll.2::13q22.1→13q12.5::12pll.2→12qter)mat]. Qualitative and quantitative gene marker studies and chromosomal staining techniques to differentiate timing of DNA replication failed to indicate functional gene changes about th

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01743.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A Jewish Sephardi family is reported in which 16 members are affected (15 females and 1 male) with inverted nipples. The one affected male and his brother also have gynecomastia. Under the assumption that this trait is transmitted as an autosomal dominant, linkage studies were done but were not revealing. Further family and investigative studies are needed in this disorder to understand better its pathogenesis and precise mode of genetic transmission.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01744.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Two cases of severely malformed infants with abnormal fetal images on B–scan sonography and markedly elevated amniotic fluid AFP are presented. There was no evidence of neural tube anomalies. The importance of an amniocentesis and AFP in pregnancies with an abnormal fetal image on B–scan sonography is emphasized, taking into consideration that most pregnancies with elevated fluid AFP have serious fetal anomal

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01745.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Neurological evaluation of a family living in rural Louisiana showed that six living members have spasticity, hyperactive stretch reflexes, and pathological reflexes. Ten deceased family members had been similarly affected. All affected persons were offspring of consanguineous marriages, and sex distribution was equal, indicating that the inheritance was autosomal recessive. Although undetected clinically, conduction abnormalities suggestive of demyelination in the visual pathways were revealed by special tests.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01746.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY