摘要:

Serum cholinesterase 2 (CHE2) was examined in a Danish material of normal families that has been tested earlier for 70–78 classical marker systems and 25 RFLP systems. DNA for RFLP typing was provided by transforming 16‐year‐old frozen lymphocytes. The frequency of allele CHE2*C5 + in the Danish population was found to be 0.0430. The highest lod score was between CHE2 and the γ‐crystallin gene cluster (CRYG) (ẑ= 4.21 at θ= 0.00 in females). The scores were from a single family with 15 children. CHE2 may, accordingly, be assigned to the location of CRYG: chromosome 2, ban

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02951.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

In a series of 34 patients with defects of the radial ray, 24 individuals had additional clinical manifestations. A firm syndromic diagnosis could be reached in 17 persons (TAR syndrome 4, Holt‐Oram syndrome 8, Fanconi anaemia 2, VATER association 2, Radial ray‐choanal atresia 1). In the remainder, no specific diagnosis could be established. The heterogeneity of radial ray syndromes has important implications for prognostication and genetic counsell

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02952.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Subjects drawn from a population‐based register were studied with respect to lipid level association. The association of isoforms of apolipoprotein E (apoE) with lipid level in the general population was found to be limited to people with one particular genotype at the low density lipoprotein receptor (LDLR) locus. The results presented in this paper suggest that functional LDLR variants enhance or limit the effect of isoforms of apoE. The association between apoE4 and serum total and LDL cholesterol level may be mediated through the LDL (apoB100, apoE) receptor to a greater extent than previously though

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02953.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Using RFLP studies, the disease locus in two X‐linked retinitis pigmentosa families was found to be centromeric to DXS7 in one family and telomeric to DXS7 in another, suggesting nonallelic heterogeneit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02954.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Fifteen cases of the de Lange syndrome are presented. Personal and family histories, clinical features, detailed radiological findings, laboratory data, chromosome studies and dermatogly‐phic patterns are reported. A Negro patient and his autopsy findings are described. Radiological diagnostic features are stressed; in particular, the combined presence of a hypoplastic middle phalanx of the index fingers and variable short metatarsal appear to be two additional features which are diagnostically helpful. The etiology of the syndrome is unknown; however, there is some evidence to suggest a genetic basis. The literature is briefly reviewe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02955.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Expression of the hexosaminidase isozymes was evaluated in fibroblast cell lines obtained from two sibs of Lebanese‐Christian origin who presented with juvenile‐onset Tay‐Sachs disease. In the normal control fibroblasts theαsubunit of hexosaminidase A (hex A) is synthesized as a 67 KD precursor which is cleaved in lysosomes to a mature 54 KD peptide. The patients' fibroblasts were capable of synthesizing the 67 KD precursor but failed to convert it to the mature subunit. Theαsubunit precursor synthesized by patients' cells could not be phosphorylated, nor was the patients'αsubunit precursor secreted into the medium in response to NH4Cl, which caused accumulation of bothαandβsubunit precursor in the medium of the normal control fibroblasts. The measurement of residual enzyme activity in the fibroblasts of patients which best correlated with the onset of the illness was the ion exchange chromatographic separation of Hex A‐associated hydrolysis of the synthetic substrate 4‐methylumbelliferyl N‐acetyl‐β‐D‐glucosamine‐6‐sulfate (4MUGS). The patients had 0.32% and 0.36% of Hex Aassociated 4MUGS cleaving activity compared to normal control fibroblasts as compared to<0.016% for infantile Tay‐Sachs disease fibroblasts. The residual Hex A activity in patients cells had a pH optimum identical with normal enzyme (pH 3.9–4.0), a reduced specific activity for 4MUGS (relative to hydrolysis of unsulfated synthetic substrate), and a greatly enhanced thermal stability. The occurrence of this form of Tay‐Sachs disease in Lebanon, the fact that the condition has been described in three unrelated Lebanese immigrant families in Canada, together with the fact that the grandparents of the unrelated probands come from villages in both the northern and southern regions of Lebanon, leads us to speculate that a gene causing juvenile‐onset Tay‐Sachs dis

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02956.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

A 32‐year‐old man with disproportionate short stature and striking facial dysmorphism came to genetic counseling as his wife was expecting their first child. In early infancy he had been diagnosed as having chondrodysplasia punctata, later regarded to be the autosomal dominant hereditary form. The expectant father was therefore convinced of a high risk of recurrence and vacillated between thoughts of taking his own life and of having his wife's pregnancy terminated. When his history revealed recurrent thromboses in his mother, treated with anticoagulants during pregnancy, her medical records of 1953 were located, and they disclosed that she had been treated with phenprocoumon (Marcoumar®) from the 8th to the 12th and from the 13th to the 15th weeks of pregnancy. The patient has since become the father of a healthy

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02957.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

A case of pure 12p trisomy was discovered in a 14‐year‐old boy during a cytogenetic survey of Egyptian students attending a school for mentally retarded children. The patient had a normal birth weight but later showed developmental delay. Clinical examination at 14 years of age revealed a high bulging forehead, broad and flat nasal bridge, large mouth with everted lower lip, folded upper ear helix with protuberant antihelix, pectus excavatum, undescended testes, flat feet, generalized hypotonia and moderate mental retardation. Chromosomes analyzed from blood lymphocytes showed an enlarged short arm with an additional band on one of the no. 12 chromosomes. The duplicated chromosomal material extended from 12pter→p12.2, including the LDH‐B locus, which showed a gene‐dosage effect. This extra chromosomal material arosede novoby tandem duplication. The parents' chromosomes we

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02958.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

In this report we describe the association of retinitis pigmentosa, hearing loss and vitiligo in two non‐related patients. The second patient developed, in addition, an axonal polyneuritis after the age of 30. Previous reports dealing with this unusual combination of symptoms are discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02959.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02960.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY