Basicmedical Key

Type OMIM# Gene Chr. Protein Inheritance Age of onset 1 235200 HFE 6p22.2 Hereditary Hemochromatosis Protein Autosomal recessive Adult 2A 602390 HJV 1q21.1 Hemojuvelin Autosomal recessive Child to young adult…

Figure 25.1 Schematic representation of the MEN1 gene indicating the intron–exon organization, as well as the relative location, type, and distribution of germline mutations characterized in patients with MEN1. Functional…

Figure 28.1 Tumor spectrum in individuals affected with LFS or LFL. The proportion of specific types of tumors among a total of 822 tumors reported in patients with LFS or…

Application Considerations Genetics Ethical issues (presymptomatic and prenatal testing) Consequences for family members Informed consent requirements Requirements for family-related information (ethnicity, pedigree, specimens) Time sensitivity (prenatal diagnosis) Complex risk-assessment calculations…

Figure 2.1 The polymerase chain reaction The hybridized PCR primers form local areas of double strandedness with the template DNA, thereby serving as sites for DNA polymerase to bind and…

Characteristic Hepatitis B virus Hepatitis C virus Type of virus Hepadnavirus Hepacivirus Viral genome 3.2 kb, relaxed circular, partially double-stranded DNA 9.5 kb, positive-sense, single-stranded RNA Routes of transmission Parenteral…

Figure 9.1 Multiplex DNA amplification of DMD exons 8, 13, 19, 45, and 47. Lane 1: normal control; lane 2: DMD patient with exon 13 deletion; lane 3: DMD patient…

Figure 34.1 Genetic pathways for urothelial carcinoma tumorigenesis. Noninvasive papillary tumors are characterized by early activating mutations of the FGFR3 gene, inactivating mutations or epigenetic alterations of the P16 gene,…

Allele type Repeat range Methylation status Normal 5–44 Not methylated Intermediate/gray zone 45–54 Not methylated Premutation 55–200 Not methylated Full mutation >200 Methylated Methylation mosaic >200 Variable methylation Premutation/full-mutation mosaic…