Biomaterial Database

[Gene deletion of X-linked ichthyosis]. 1992

M Li

Nanjing Railway Medical College.

The characterization of steroid sulfatase (STS) gene mutation from seven X-linked ichthyotic patients was performed by multiple polymerase chain reaction (MPCR) which amplified two specific regions at the 5' and 3' end of STS gene. The results indicated that five out seven patients were found to have entire STS gene deletion. Two other cases and five patients' mothers showed two amplification fragments. So did two cases of dominant ichthyosis vulgaris. It was further ascertained that entire gene deletion is the main mutation of STS locus in Chinese population. MPCR is a rapid and simple method for gene diagnosis of X-linked ichthyosis.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008969	Molecular Sequence Data	Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.	Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001192	Arylsulfatases	Enzymes that catalyze the hydrolysis of a phenol sulfate to yield a phenol and sulfate. Arylsulfatase A, B, and C have been separated. A deficiency of arylsulfatases is one of the causes of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.1.	Arylsulfatase,Arylsulfate Sulfohydrolase,Arylsulfate Sulfohydrolases,Arylsulphatase,Arylsulphatases,Pseudo Arylsulfatase A,Sulfohydrolase, Arylsulfate
D001483	Base Sequence	The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.	DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D016114	Ichthyosis, X-Linked	Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.	Ichthyosis, Sex-Linked,Steroid Sulfatase Deficiency Disease,Placental Steroid Sulfatase Deficiency,Steroid Sulfatase Deficiency,Deficiencies, Steroid Sulfatase,Deficiency, Steroid Sulfatase,Ichthyoses, Sex-Linked,Ichthyoses, X-Linked,Ichthyosis, Sex Linked,Ichthyosis, X Linked,Steroid Sulfatase Deficiencies,Sulfatase Deficiencies, Steroid,Sulfatase Deficiency, Steroid
D016133	Polymerase Chain Reaction	In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.	Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain
D043266	Steryl-Sulfatase	An arylsulfatase with high specificity towards sulfated steroids. Defects in this enzyme are the cause of ICHTHYOSIS, X-LINKED.	3 Beta-Hydroxysteroid Sulfate Sulfatase,Arylsulfatase C,Arylsulphatase C,Cholesterol Sulfatase,Cholesterol Sulfate Sulfatase,DHEA Sulfatase,Dehydroepiandrosterone Sulfate Sulfatase,Estrone Sulfate Sulfatase,Estrone Sulfate Sulfohydrolase,Steroid Sulfatase,Steroid Sulfohydrolase,Steroid Sulphatase,Sterol Sulfatase,Sterylsulfatase,3 Beta Hydroxysteroid Sulfate Sulfatase,Steryl Sulfatase,Sulfatase, Cholesterol,Sulfatase, Cholesterol Sulfate,Sulfatase, DHEA,Sulfatase, Dehydroepiandrosterone Sulfate,Sulfatase, Estrone Sulfate,Sulfatase, Steroid,Sulfatase, Sterol,Sulfate Sulfatase, Cholesterol,Sulfate Sulfatase, Dehydroepiandrosterone,Sulfate Sulfatase, Estrone,Sulfate Sulfohydrolase, Estrone,Sulfohydrolase, Estrone Sulfate,Sulfohydrolase, Steroid,Sulphatase, Steroid