Identification and characterization of three genes and two pseudogenes on chromosome 13.

abstract：:Three Japanese glucose 6-phosphate dehydrogenase (G6PD) variants were investigated. G6PD 'Mediterranean-like' had markedly decreased activity, normal electrophoretic mobility, low Km G6P, low Km NADP, increased utilization of all three substrate analogues (2-deoxy-G6P, Gal-6P, and deamino-NADP) and slightly decreased ...

journal_title：Human genetics

authors： Miwa SH,Nakashima K,Ono J,Fujii H,Suzuki E

更新日期：1977-05-10 00:00:00

abstract：:Hand-foot-genital syndrome (HFGS) is a dominantly inherited congenital malformation affecting the distal limbs and genitourinary tract. Here, we describe the phenotype and its molecular basis in a family that presented with HFGS. Genetic analysis revealed that the condition is caused by an 18-bp in-frame duplication w...

journal_title：Human genetics

authors： Utsch B,Becker K,Brock D,Lentze MJ,Bidlingmaier F,Ludwig M

更新日期：2002-05-01 00:00:00

abstract：:The development of prenatal diagnosis in Italy was made difficult by the restrictions of the old abortion law and only in recent years has a consistent number of cases been investigated. We report the experience on prenatal chromosome diagnosis of ten Italian centers participating in a collaborative study on 4952 diag...

journal_title：Human genetics

authors： Simoni G,Fraccaro M,Arslanian A,Bacchetta M,Baccichetti C,Bignone FA,Cagiano A,Carbonara AO,Carozzi F,Cuoco C,Bricarelli FD,Dallapiccola B,Dalprà L,Carbone LD,Ferranti G,Filippi G,Frateschi M,Gimelli G,Gualtieri RM,

更新日期：1982-01-01 00:00:00

abstract：:The premeiotic and meiotic stages are described in the pollen mother cells of the liliaceous plant Eremurus. In human oocytes from embryonic ovaries, the premeiotic and early meiotic stages up to dictyotene have been identified on morphological grounds. In Eremurus, in which each stage can be independently verified by...

journal_title：Human genetics

authors： Therman E,Sarto GE

更新日期：1977-02-11 00:00:00

abstract：:An new type of translocation, t(10;13)(q25;q11), is observed in a phenotypically normal male who was examined for subfertility. The meiotic behavior of the rearranged chromosomes indicates that crossing-over is very frequent in a rather small segment such as the short arm of chromosome 13 and constant in the distal ba...

journal_title：Human genetics

authors： Laurent C,Biemont MC,Cognat M,Dutrillaux B

更新日期：1977-11-02 00:00:00

abstract：:A single-strand conformational polymorphism found in the DNA of a patient with neurofibromatosis 1 (NF1) was shown to be caused by a deletion of a CCACC or CACCT sequence and an adjacent transversion, located about 500 base pairs downstream from the region that codes for a functional domain of the NF1 gene product. Th...

journal_title：Human genetics

authors： Stark M,Assum G,Krone W

更新日期：1991-10-01 00:00:00

abstract：:Genetic polymorphisms in the apolipoprotein B (apoB) gene have been reported to be associated with altered serum lipids and susceptibility to cholesterol gallstones (GS). Gallstones are among the well-known risk factors for carcinoma of the gallbladder (GBC). In the present study, the association between the XbaI poly...

journal_title：Human genetics

authors： Singh MK,Pandey UB,Ghoshal UC,Srivenu I,Kapoor VK,Choudhuri G,Mittal B

更新日期：2004-02-01 00:00:00

abstract：:Published data on the association between FAS -1,377 G/A polymorphism and cancer risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. A total of 17 studies including 10,564 cases and 12,075 controls were involved in this meta-analysis. Overall, significantly el...

journal_title：Human genetics

authors： Qiu LX,Shi J,Yuan H,Jiang X,Xue K,Pan HF,Li J,Zheng MH

更新日期：2009-05-01 00:00:00

abstract：:We present a simple rapid reproducible polymerase chain reaction based technique, termed amplified product length polymorphism (APLP), as a new strategy for primer design for ABO genotyping. The method involves the use of primers differing in length and permits the identification of the major ABO genotypes (A1, A2, B,...

journal_title：Human genetics

authors： Watanabe G,Umetsu K,Yuasa I,Suzuki T

更新日期：1997-01-01 00:00:00

abstract：:Familial long QT syndrome (LQTS) is characterized by prolonged ventricular repolarization. Clinical symptoms include recurrent syncopal attacks, and sudden death may occur as a result of ventricular tachyarrhythmias. Three genes responsible for this syndrome (KVLQT1, HERG, and SCN5A) have been identified so far, and m...

journal_title：Human genetics

authors： Itoh T,Tanaka T,Nagai R,Kamiya T,Sawayama T,Nakayama T,Tomoike H,Sakurada H,Yazaki Y,Nakamura Y

更新日期：1998-04-01 00:00:00

abstract：:The simultaneous analysis of closely linked nucleotide substitutions has recently become possible. However, it is not known whether the construction of molecular haplotypes will be a generally useful strategy for nuclear genes. Furthermore, whereas mobility-shift methods are widely used for the discovery of nucleotide...

journal_title：Human genetics

authors： Peterson RJ,Goldman D,Long JC

更新日期：1999-02-01 00:00:00

abstract：:Despite the family aggregation of severe teenage acne, the genetic basis of this common skin condition remains unclear. We conducted a genome-wide association study (GWAS) on severe teenage acne in 928 European Americans. The SNP rs4133274 on chromosome 8q24 (72 kb upstream of MYC) revealed the most significant associ...

journal_title：Human genetics

authors： Zhang M,Qureshi AA,Hunter DJ,Han J

更新日期：2014-03-01 00:00:00

abstract：:A novel procedure is presented to estimate the ratio of male to female mutation rates for Duchenne muscular dystrophy (DMD). X-specific restriction fragment length polymorphisms are used to establish DNA haplotypes in three-generation DMD families. From the proportion of DMD patients who have inherited their maternal ...

journal_title：Human genetics

authors： Müller CR,Grimm T

更新日期：1986-10-01 00:00:00

abstract：:Rearranged human chromosomes carrying segments of chromosome 11 were separated from the normal chromosome 11 by high-resolution chromosome sorting. Sorted chromosomes were tested with parathyroid hormone, beta-globin, insulin, and LDH-A gene-specific probes to determine the genes carried by each chromosome segment. Ba...

journal_title：Human genetics

authors： Lebo RV,Cheung MC,Bruce BD,Riccardi VM,Kao FT,Kan YW

更新日期：1985-01-01 00:00:00

abstract：:Genetic factors strongly influence risk of common human diseases and treatment outcomes but the causative variants remain largely unknown; this gap has been called the 'missing heritability'. We propose several hypotheses that in combination have the potential to narrow the gap. First, given a multi-stage path from we...

journal_title：Human genetics

authors： Sadee W,Hartmann K,Seweryn M,Pietrzak M,Handelman SK,Rempala GA

更新日期：2014-10-01 00:00:00

abstract：:High-throughput DNA sequencing (HTS) is of increasing importance in the life sciences. One of its most prominent applications is the sequencing of whole genomes or targeted regions of the genome such as all exonic regions (i.e., the exome). Here, the objective is the identification of genetic variants such as single n...

journal_title：Human genetics

authors： Altmann A,Weber P,Bader D,Preuss M,Binder EB,Müller-Myhsok B

更新日期：2012-10-01 00:00:00

abstract：:The Tai-Kadai (TK) language family is thought to have originated in southern China and spread to Thailand and Laos, but it is not clear if TK languages spread by demic diffusion (i.e., a migration of people from southern China) or by cultural diffusion, with native Austroasiatic (AA) speakers switching to TK languages...

journal_title：Human genetics

authors： Kutanan W,Kampuansai J,Srikummool M,Kangwanpong D,Ghirotto S,Brunelli A,Stoneking M

更新日期：2017-01-01 00:00:00

abstract：:In human females, both X chromosomes are equivalent in size and genetic content, and pairing and recombination can theoretically occur anywhere along their entire length. In human males, however, only small regions of sequence identity exist between the sex chromosomes. Recombination and genetic exchange is restricted...

journal_title：Human genetics

authors： Rappold GA

更新日期：1993-10-01 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

authors： Yoshida S,Yamaji Y,Yoshida A,Noda Y,Kumano Y,Ishibashi T

更新日期：2005-05-01 00:00:00

abstract：:The aim of this study was to estimate the risk of viable unbalanced offspring for a parental carrier of reciprocal translocation. On a large computerized database of reciprocal translocations we used logistic regression to model this risk. The status of the progeny is the outcome variable. Explanatory covariates are c...

journal_title：Human genetics

authors： Cans C,Cohen O,Lavergne C,Mermet MA,Demongeot J,Jalbert P

更新日期：1993-12-01 00:00:00

abstract：:Qualitative and quantitative defects in human germ cell production that result in infertility are common and determined at least in part by genetic factors [Matzuk and Lamb, Nat Cell Biol 4(Suppl):s41-s49, 2002]. Yet, very few genes that are associated with germ cell defects in humans have been identified. In this stu...

journal_title：Human genetics

authors： Tung JY,Rosen MP,Nelson LM,Turek PJ,Witte JS,Cramer DW,Cedars MI,Pera RA

更新日期：2006-02-01 00:00:00

abstract：:The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component we...

journal_title：Human genetics

authors： Ananthakrishnan R,D'Souza S

更新日期：1978-01-19 00:00:00

abstract：:Mouse mutants are a long-lasting, valuable tool to identify genes underlying eye diseases, because the absence of eyes, very small eyes and severely affected, cataractous eyes are easily to detect without major technical equipment. In mice, actually 145 genes or loci are known for anophthalmia, 269 for microphthalmia,...

journal_title：Human genetics

authors： Graw J

更新日期：2019-09-01 00:00:00

abstract：:Recently the defective gene locus in seven Caucasian families with the Romano-Ward form of long QT syndrome (LQT) has been mapped to chromosome 11p. To understand the molecular basis of LQT in Chinese, a three-generation family was investigated. Fourteen family members were studied and five individuals were diagnosed ...

journal_title：Human genetics

authors： Ko YL,Chen SA,Tang TK,Lin JL,Chiang CE,Chen JJ,Teng MS,Chang MS,Lien WP,Wu CW

更新日期：1994-10-01 00:00:00

abstract：:Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb. Seven children with...

journal_title：Human genetics

authors： Crotty PL,Whitley CB

更新日期：1992-11-01 00:00:00

abstract：:The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By...

journal_title：Human genetics

authors： Eiberg H,Troelsen J,Nielsen M,Mikkelsen A,Mengel-From J,Kjaer KW,Hansen L

更新日期：2008-03-01 00:00:00

abstract：:Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous mutations of the SMN1 gene. SMN1 interacts with multiple proteins with functions in snRNP biogenesis, pre-mRNA splicing and presumably neural transport. SMN2, a nearly identical copy of SMN1, produces predominantly exon 7-skipped t...

journal_title：Human genetics

authors： Helmken C,Hofmann Y,Schoenen F,Oprea G,Raschke H,Rudnik-Schöneborn S,Zerres K,Wirth B

更新日期：2003-12-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited renal diseases. ADPKD is a genetically heterogeneous disorder involving at least three different genes. PKD1, the major locus mapped to chromosome 16p13.3 accounts for approximately 85% of ADPKD cases. The search for mutations i...

journal_title：Human genetics

authors： Perrichot RA,Mercier B,Simon PM,Whebe B,Cledes J,Ferec C

更新日期：1999-09-01 00:00:00

abstract：:Non-obstructive azoospermia (NOA), the lack of spermatozoa in semen due to impaired spermatogenesis affects nearly 1% of men. In about half of cases, an underlying cause for NOA cannot be identified. This study aimed to identify novel variants associated with idiopathic NOA. We identified a nonconsanguineous family in...

journal_title：Human genetics

authors： Salas-Huetos A,Tüttelmann F,Wyrwoll MJ,Kliesch S,Lopes AM,Goncalves J,Boyden SE,Wöste M,Hotaling JM,GEMINI Consortium.,Nagirnaja L,Conrad DF,Carrell DT,Aston KI

更新日期：2020-11-19 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

authors： Niebuhr E

更新日期：1978-06-09 00:00:00