Abstract:
:It has been reported that studies of the genetic consequences of inbreeding should adopt a different strategy in populations having a relatively old inbreeding history and where inbreeding levels have varied over time. This contention is tested with a series of 39,495 single-birth records from Bombay, India, collected in a World Health Organization survey on congenital malformations. Our analysis reveals that: 1. the incidence of major malformations is significantly higher among the inbred offspring (1.34%) as compared to that among non-inbred ones (0,81%)--a finding at variance with a previous study in the same area; 2. the inbreeding effect on perinatal mortality (stillbirths and mortality during the first few days of life) is also found to be significant. In view of the above findings, the genetic load as disclosed by inbreeding is computed for perinatal mortality, major malformations and pooling these together. A + B, the measure of the number of lethal equivalents per gamete, is found to be at variance with other reports. Such variability can be ascribed to non-genetic factors. Supporting evidence collected from Brazil and Malaysia in the same survey is also presented.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Chakraborty R,Chakravarti Adoi
10.1007/BF00390435subject
Has Abstractpub_date
1977-04-07 00:00:00pages
47-54issue
1eissn
0340-6717issn
1432-1203journal_volume
36pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::As new genes for A/M are identified in the genomic era, the number of syndromes associated with A/M has greatly expanded. In this review, we provide a brief synopsis of the clinical presentation and molecular genetic etiology of previously characterized pathways involved in A/M, including the Sex-determining region Y-...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-018-1949-1
更新日期:2019-09-01 00:00:00
abstract::The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291506
更新日期:1976-05-19 00:00:00
abstract::Genome-wide association studies (GWAS) have identified a large number of disease-associated SNPs, but in few cases the functional variant and the gene it controls have been identified. To systematically identify candidate regulatory variants, we sequenced ENCODE cell lines and used public ChIP-seq data to look for tra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1654-x
更新日期:2016-05-01 00:00:00
abstract::A pilot project offering voluntary heterozygote screening for the delta F508 mutation causing cystic fibrosis (CF) to 638 pregnant women attending two antenatal clinics in the eastern part of Berlin was carried out from 1990-1993. Participation was invited using an information leaflet and inclusion in the study was co...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02272835
更新日期:1994-07-01 00:00:00
abstract::Recent studies of the corneal dystrophies (CDs) have shown that most cases of granular CD, Avellino CD, and lattice CD type I are caused by mutations in the human transforming growth factor beta-induced (TGFBI) gene. The aim of this study was to develop a rapid diagnostic assay to detect mutations in the TGFBI gene. S...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1269-0
更新日期:2005-05-01 00:00:00
abstract::Restriction endonucleases have been recently proved to be active on fixed chromosomes, thus they are useful in chromatin structure studies. Within this class of enzymes, Alu I is able to detect the presence and localization of highly repetitive DNA sequences in human and in other mammalian and dipteran species. In thi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291894
更新日期:1986-03-01 00:00:00
abstract::We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convinci...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218918
更新日期:1994-01-01 00:00:00
abstract::Chromosome investigation of 35 individuals with a 5p- karyotype and their families revealed the presence of 27 apparently terminal deletions, four interstitial deletions, and four translocations, including two familial cases. Four of the probands with simple deletions and one of the mother were mosaics. Unusual chromo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283634
更新日期:1978-06-09 00:00:00
abstract::We report a missense mutation in an adult Japanese patient with acid alpha-glucosidase (GAA) deficiency. A TC to GT transition at nucleotides 1585-1586, was identified. This transition resulted in an amino acid substitution of Ser-529 to Val (S529V) in exon 11. We also have demonstrated that the S529V mutation abolish...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02267074
更新日期:1996-04-01 00:00:00
abstract::Mitochondrial DNA (mtDNA) haplogroups are valuable for investigations in forensic science, molecular anthropology, and human genetics. In this study, we developed a custom panel of 61 mtDNA markers for high-throughput classification of European, African, and Native American/Asian mitochondrial haplogroup lineages. Usi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1421-9
更新日期:2014-07-01 00:00:00
abstract::With rapid developments in genomic and digital technologies, genomic data sharing has become a key issue for the achievement of precision medicine in South Korea. The legal and administrative framework for data sharing and protection in this country is currently under intense scrutiny from national and international s...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-018-1920-1
更新日期:2018-08-01 00:00:00
abstract::Increasing experimental evidence supports a connection between inflammation and mitochondrial dysfunction. Both acute and chronic inflammatory diseases course with elevated free radicals production that may affect mitochondrial proteins, lipids, and mtDNA. The subsequent mitochondrial impairment produces more reactive...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-011-1057-y
更新日期:2012-02-01 00:00:00
abstract::We have isolated cDNA clones from a human NK cell cDNA library that encode the serine protease granzyme B. Although the sequence of the entire coding region for the mature protein and the 3' untranslated region of the clone are identical to other cDNA isolates of this gene obtained from human T cell cDNA libraries, th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00195821
更新日期:1990-04-01 00:00:00
abstract::The karyotypes of more than 60 species of Primates are studied and compared, with the use of almost all existing banding techniques. There is a very close analogy of chromosome banding between the Simians studied and man. The quantitative or qualitative variations detected all involve the heterochromatin. It is very l...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00272830
更新日期:1979-05-10 00:00:00
abstract::The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germli...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1766-y
更新日期:2017-04-01 00:00:00
abstract::We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201578
更新日期:1994-06-01 00:00:00
abstract::A C4 variant found in about 5% of the population is described. The fast-moving part of this variant is governed by an allele (Fx) codominant to F. The Fx allele is in very strong linkage disequilibrium with HLA-B17 as the linkage disequilibrium parameter accounted for nearly 100% of the haplotype frequency of B17,Fx. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00289447
更新日期:1979-01-01 00:00:00
abstract::Two new cases of ring chromosome 15 are reported. A review of the nine cases described in the literature shows that ring chromosomes 15 are associated with a rather uniform phenotype characterized by slight to moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278290
更新日期:1979-09-02 00:00:00
abstract::Oocyte loss has a significant impact on fertility and somatic health. Yet, we know little about factors that impact this process. We sought to identify genetic variants associated with ovarian reserve (oocyte number as measured by antral follicle count, AFC). Based on recently published genome-wide scans that identifi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-012-1184-0
更新日期:2012-11-01 00:00:00
abstract::This report concerns two new mutations in the sterol 27-hydroxylase gene in two patients with cerebrotendinous xanthomatosis (CTX). In a Surinam-Creole patient (patient A), a G deletion on position cDNA 546/547 in exon 3 led to a frameshift and the introduction of a premature termination codon. In a Dutch patient (pat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050294
更新日期:1996-12-01 00:00:00
abstract::Defects in the enzyme steroid 21-hydroxylase (21-OH) result in congenital adrenal hyperplasia (CAH), a frequent disorder of steroid biosynthesis. The gene encoding the enzyme, 21-OHB, has been mapped adjacent to the complement component C4B gene in the human HLA gene complex. DNA-level analyses of patients with CAH ha...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291739
更新日期:1988-04-01 00:00:00
abstract::Preterm birth (PTB) is the leading cause of infant mortality. PTB pathophysiology overlaps with those of adult cardiovascular, immune and metabolic disorders (CIMD), with mechanisms including inflammation, immunotolerance, thrombosis, and nutrient metabolism. Whereas many genetic factors for CIMD have been identified,...
journal_title:Human genetics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00439-012-1223-x
更新日期:2013-01-01 00:00:00
abstract::Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050227
更新日期:1996-10-01 00:00:00
abstract::DNA haplotypes and frameworks (numbers in parenthesis) linked to the beta-globin gene were determined by restriction fragment analysis using eight restriction endonucleases on 86 (97) chromosomes bearing the normal beta-globin gene (HBB*A) and 108 (118) chromosomes bearing HBB*E in subjects homozygous for HBB*A or HBB...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00451464
更新日期:1988-09-01 00:00:00
abstract::We have described a novel human globin gene mutation that produced in a Japanese family the beta-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the beta-globin chain greatly reduced the molecular stability of the beta-globin subunit, ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00451448
更新日期:1988-09-01 00:00:00
abstract::A new procedure for determining the chromosomal origin of marker chromosomes has been carried out. The origin of marker chromosomes that were unidentifiable by standard banding techniques could be verified by reverse chromosome painting. This technique includes microdissection, followed by in vitro DNA amplification a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201567
更新日期:1994-06-01 00:00:00
abstract::The motor neuron diseases (MND) are a group of related neurodegenerative diseases that cause the relative selective progressive death of motor neurons. These diseases range from slowly progressive forms including hereditary motor neuropathy (HMN), to the rapidly progressive disorder amyotrophic lateral sclerosis (ALS)...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0348-9
更新日期:2007-06-01 00:00:00
abstract::Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271160
更新日期:1981-01-01 00:00:00
abstract::Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286853
更新日期:1976-08-30 00:00:00
abstract::African Americans have increased susceptibility to non-diabetic (non-DM) forms of end-stage renal disease (ESRD) and extensive evidence supports a genetic contribution. A genome-wide association study (GWAS) using pooled DNA was performed in 1,000 African Americans to detect associated genes. DNA from 500 non-DM ESRD ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0842-3
更新日期:2010-08-01 00:00:00