Abstract:
:Gene frequency data of ten protein and enzyme loci in seven populations of India were collected from the literature. The gene differentiation among seven populations relative to total population was only 0.6%, indicating that the genic variation between populations was small compared to that within them. Using 29 common protein loci, the genetic distances between Indians and three major races of man, Caucasoids, Mongoloids, and Negroids were also determined. Indians are closer to Mongoloids than to Caucasoids or Negroids as indicated by the phylogenetic tree.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Roychoudhury AKdoi
10.1007/BF00280836subject
Has Abstractpub_date
1977-12-29 00:00:00pages
99-106issue
1eissn
0340-6717issn
1432-1203journal_volume
40pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::We have identified a Tsp509I polymorphism in the 3' UTR of the human tyrosinase related protein-1 gene (TYRP). TYRP is one of several genes involved in melanin pigment production. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209417
更新日期:1995-02-01 00:00:00
abstract::Cowden disease is an autosomal dominant disorder associated with an elevated risk of breast, thyroid and skin cancers, in which germline mutations of a tumour suppressor gene (PTEN) have been identified. PTEN has a dual-specificity tyrosine phosphatase domain thought to be essential for tumour suppression. Previous ge...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000317
更新日期:2000-07-01 00:00:00
abstract::The most common form of chronic granulomatous disease (CGD) is caused by mutations in the CYBB gene that is carried on the X-chromosome and give rise to the X-linked form of the disease. The product of this gene is the large subunit of flavocytochrome b558, gp91phox, the catalytic core of the superoxide-generating enz...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100551
更新日期:2001-08-01 00:00:00
abstract::Complex investigation of a spontaneous abortus with monosomy 21 was carried out. Phenotypic expression at the organism and tissue level was characterized by the pathology of the external form of the embryo and by abnormalities of the embryonic facial structures, the stomodeum, the anterior part of the primary gut, and...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00527395
更新日期:1977-09-22 00:00:00
abstract::A case of hereditary nonspherocytic hemolytic anemia associated with partial erythrocyte PFK deficiency without muscular symptoms is reported: erythrocyte enzyme activity in the propositus was 60% of normal. Kinetic studies of erythrocyte PFK revealed increased sensitivity to ATP inhibition and decreased sensitivity t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270403
更新日期:1976-01-28 00:00:00
abstract::Development of protective immunity against Plasmodium falciparum is partially mediated through binding of malaria-specific IgG to Fc gamma (γ) receptors. Variations in human FcγRIIA-H/R-131 and FcγRIIIB-NA1/NA2 affect differential binding of IgG sub-classes. Since variability in FcγR may play an important role in seve...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1076-8
更新日期:2012-02-01 00:00:00
abstract::The staining properties of AT-specific dyes Hoechst 33342 and DAPI as revealed by Hoechst 33342/mithramycin and mithramycin/DAPI bivariate human flow karyotype patterns are different for chromosomes rich in heterochromatin. The peak corresponding to chromosome Y of a given cell line is higher on the A/T axis with mith...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286716
更新日期:1989-09-01 00:00:00
abstract::The possible influence of the fragile X mutation at Xq27 on the expression of the neighbouring gene (at Xq26) for hypoxanthine phosphoribosyl transferase (HPRT) was studied by determination of the levels of HPRT-RNA and HPRT enzyme activity in fibroblast cell cultures from 7 fragile X patients. These levels were lower...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197177
更新日期:1991-08-01 00:00:00
abstract::We report the molecular characterization of a ring X chromosome that was transmitted from a mother to a male who has short stature and minor dysmorphic features. This represents only the second reported ring X chromosome in a male. The ring is derived from breakage within the Xp pseudoautosomal region (PAR) and just p...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0685-7
更新日期:2002-04-01 00:00:00
abstract::Five sequence polymorphisms at the phenylalanine hydroxylase (PAH) gene locus were observed to be in tight association with specific alleles of this locus. Since these polymorphisms can be detected using polymerase chain reaction (PCR) methodology, application of a combination of these polymorphisms reduces the effort...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00208290
更新日期:1994-09-01 00:00:00
abstract::Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X chromosome in males since they result in functional null alleles. So far, microdeletions at Xq24 reported in males always have been associated with a syndromic fo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1322-3
更新日期:2013-10-01 00:00:00
abstract::By analyzing c-myc specific fragments from white blood cell DNAs of 98 gastric cancer patients and 46 control subjects, we observed 6 unexpected patterns due to presence of a variant c-myc gene in addition to the normal gene. Restriction enzyme mapping indicated that the variant c-myc gene was the result of a 5' delet...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209016
更新日期:1991-09-01 00:00:00
abstract::The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in o...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1779-6
更新日期:2017-06-01 00:00:00
abstract::We have studied the matrilineal genetic composition of the Madeira and Açores north Atlantic archipelagos, which were settled by the Portuguese in the 15th century. Both archipelagos, and particularly Madeira, were involved in a complex commercial network established by the Portuguese, which included the trading of sl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1024-3
更新日期:2003-12-01 00:00:00
abstract::Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typic...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-002-0828-x
更新日期:2002-12-01 00:00:00
abstract::Phenotypes and gene frequencies are presented for 20 serum and erythrocyte proteins in two Amerindian populations of inner French Guiana. No genetic variability was detected in 12 of these systems. Heterozygosity was calculated for the others and the reasons for its variation are discussed. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278728
更新日期:1978-12-29 00:00:00
abstract::In order to understand the role of the insulin receptor substrate-2 (IRS2) gene (chromosome region: 13q34) in obesity, a complex disorder associated with insulin resistance and glucose intolerance, we determined single nucleotide polymorphims (SNPs) and complex haplotypes in women with morbid obesity and a body mass i...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0935-3
更新日期:2003-07-01 00:00:00
abstract::Lung inflammation is the major pathogenetic feature for both chronic obstructive pulmonary disease (COPD) and lung cancer. The nuclear factor-kappa B (NFκB) and its inhibitor (IκB) play crucial roles in inflammatory. Here, we tested the hypothesis that single nucleotide polymorphisms (SNPs) in NFκB/IκB confer consiste...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-013-1264-9
更新日期:2013-04-01 00:00:00
abstract::Familial juvenile hyperuricaemic (gouty) nephropathy (FJHN), is an autosomal dominant disease associated with a reduced fractional excretion of urate, and progressive renal failure. FJHN is genetically heterogeneous and due to mutations of three genes: uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1beta...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0897-1
更新日期:2011-01-01 00:00:00
abstract::A neonate with clinical features of the 11q23 deletion syndrome was apparently mosaic with the dominant cell line showing deletion of the chromosomal segment 11q23.3 to 11qter. The presence of a few lymphocytes with a normal karyotype indicates post-zygotic deletion of chromosome 11. The mother and brother of the prop...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284923
更新日期:1987-06-01 00:00:00
abstract::One of the central goals of human genetics is the identification of loci with alleles or genotypes that confer increased susceptibility. The availability of dense maps of single-nucleotide polymorphisms (SNPs) along with high-throughput genotyping technologies has set the stage for routine genome-wide association stud...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-008-0522-8
更新日期:2008-08-01 00:00:00
abstract::Extensive studies that have sought causative mutation(s) for neural tube defects (NTDs) have yielded limited positive findings to date. One possible reason for this is that many studies have been confined to analyses of germline mutations and so may have missed other, non-germline mutations in NTD cases. We hypothesiz...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02172-0
更新日期:2020-10-01 00:00:00
abstract::Multiple sclerosis (MS) is characterized as an autoimmune demyelinating disease. Numerous family studies have confirmed a strong genetic component underlying its etiology. After several decades of frustrating research, the advent and application of affordable genotyping of dense SNP maps in large data sets has ushered...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0789-4
更新日期:2010-03-01 00:00:00
abstract::A functionally inactive plasminogen (PLG) variant designated as PLG M5 is polymorphic in the Japanese population and has a feature common to PLG with type-I mutation that has a codon 601 missense mutation in exon 15 (GCT for Ala-->ACT for Thr). This study was conducted to clarify whether the type-I mutation of PLG is ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210737
更新日期:1992-09-01 00:00:00
abstract::An analysis of 11 I Alu insertion polymorphisms (ACE, TPA25, PV92, APO, FXIIIB, D1, A25, B65, HS2.43, HS3.23, and HS4.65) has been performed in several NW African (Northern, Western, and Southeastern Moroccans, Saharawi; Algerians; Tunisians) and Iberian (Basques, Catalans, and Andalusians) populations. Genetic distan...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000370
更新日期:2000-10-01 00:00:00
abstract::There are two very different interpretations of the prehistory of Island Southeast Asia (ISEA), with genetic evidence invoked in support of both. The "out-of-Taiwan" model proposes a major Late Holocene expansion of Neolithic Austronesian speakers from Taiwan. An alternative, proposing that Late Glacial/postglacial se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1620-z
更新日期:2016-03-01 00:00:00
abstract::The Na+/H+ antiporter is a ubiquitous membrane-associated protein that plays an important role in the regulation of intracellular pH. APNH, a gene encoding the antiporter, has been cloned and mapped to the short arm of chromosome 1 by in situ hybridization. Using the polymerase chain reaction, we have amplified a 376 ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00205179
更新日期:1990-11-01 00:00:00
abstract::Defective function of the Sonic Hedgehog (SHH) signaling pathway is the most frequent alteration underlying holoprosencephaly (HPE) or its various clinical microforms. We performed an extensive mutational analysis of the entire human DISP1 gene, required for secretion of all hedgehog ligand(s) and which maps to the HP...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0628-7
更新日期:2009-05-01 00:00:00
abstract::The possibility of using TaqI restriction fragment length polymorphism (RFLP) analysis of the HLA-B locus and the HLA-DR-DQ subregions, flanking the 21-hydroxylase genes, for predicting disease in siblings of children with 21-hydroxylase deficiency was analyzed in 12 nuclear families with at least one affected child a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00194218
更新日期:1990-10-01 00:00:00
abstract::We have analyzed patient DNA samples in 77 unrelated Duchenne (DMD) and Becker (BMD) muscular dystrophy families, 73 of which were of French Canadian origin. We show that the frequency (68%) and distribution of deletions within the dystrophin gene was neither random nor unique in this population. We localized 33% of t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00194314
更新日期:1992-06-01 00:00:00