Genes, primers, PCR conditions, and amplicon sizes
. | Primers (5′ to 3′) . | . | Annealing temperature, °C (no. cycles) . | Amplicon size, bp . | |
|---|---|---|---|---|---|
| Gene (exon) . | Forward . | Reverse . | . | . | |
| Transthyretin* (2) | gtaattcttgtttcgctccaga | gataaaaccaagtcctgtggg | 58(35) | 271 | |
| Transthyretin (3) | ggtgtattactttgccatgcc | ctcgaaggtctgtatactcac | 58(35) | 226 | |
| Transthyretin (4) | tcatgtgtgtcatctgtcacg | gttaaagtggaatgaaaagtgc | 58(35) | 340 | |
| Apolipoprotein Al† (2) | caccctcagggagccaggctcgg | taggtgaggactcggccagtctgg | 65(35) | 255 | |
| Apolipoprotein Al (3) | cagccctcaacccttctgtctcacc | cagatgcgtgcgcagcgcgtccaca | 65(35) | 392 | |
| Apolipoprotein Al (3) | agctgcaagagaagctgagcccact | aacgtttattctgagcaccgggaag | 65(35) | 370 | |
| Fibrinogen Aᇠ| tgatgaagctgccttcttcga | ctcatctgccattttatagctc | 58(35) | 277 | |
| Apolipoprotein All§ (3) | tgctgtggacccagctga | gaaccccttgccctgaga | 60(35) | 217 | |
| Apolipoprotein All (4) | ctaatcccctcaccta | ggaagacaatggtctg | 45(35) | 161 | |
| Lysozyme¶ (2) | agtcacttagtgttgctgttt | accagattggtcaaatattag | 54(35) | 242 | |
. | Primers (5′ to 3′) . | . | Annealing temperature, °C (no. cycles) . | Amplicon size, bp . | |
|---|---|---|---|---|---|
| Gene (exon) . | Forward . | Reverse . | . | . | |
| Transthyretin* (2) | gtaattcttgtttcgctccaga | gataaaaccaagtcctgtggg | 58(35) | 271 | |
| Transthyretin (3) | ggtgtattactttgccatgcc | ctcgaaggtctgtatactcac | 58(35) | 226 | |
| Transthyretin (4) | tcatgtgtgtcatctgtcacg | gttaaagtggaatgaaaagtgc | 58(35) | 340 | |
| Apolipoprotein Al† (2) | caccctcagggagccaggctcgg | taggtgaggactcggccagtctgg | 65(35) | 255 | |
| Apolipoprotein Al (3) | cagccctcaacccttctgtctcacc | cagatgcgtgcgcagcgcgtccaca | 65(35) | 392 | |
| Apolipoprotein Al (3) | agctgcaagagaagctgagcccact | aacgtttattctgagcaccgggaag | 65(35) | 370 | |
| Fibrinogen Aᇠ| tgatgaagctgccttcttcga | ctcatctgccattttatagctc | 58(35) | 277 | |
| Apolipoprotein All§ (3) | tgctgtggacccagctga | gaaccccttgccctgaga | 60(35) | 217 | |
| Apolipoprotein All (4) | ctaatcccctcaccta | ggaagacaatggtctg | 45(35) | 161 | |
| Lysozyme¶ (2) | agtcacttagtgttgctgttt | accagattggtcaaatattag | 54(35) | 242 | |
The Online Mendelian Inheritance in Man identifier (OMIM ID) for transthyretin (TTR) is + 176300. There are more than 100 amyloidogenic TTR variants. Common ones include Val30Met, Thr60Ala, Ile84Thr, and Val122Ile (see Connors et al3 ).
The OMIM ID for apolipoprotein AI is *107680. Most variants are nonneuropathic and cause cardiac and cutaneous amyloidosis. Common ones include Gly26Arg, Leu60Arg, Trp50Arg, Leu90Pro, Arg173Pro, Leu174Ser, Ala175pro, and a deletion variant with a 2-bp insertion at position 60.
The OMIM ID for fibrinogen Aα is + 134820. There are at least 3 amyloidogenic variants: Arg554Leu, Glu526Val, and a frameshift mutation that causes termination at codon 548.
The OMIM ID for apolipoprotein AII is *107670. The amyloidogenic variants involve stop codon mutations at position 78 to glycine, serine, or arginine, with abnormal extension of the protein; these variants are usually nonneuropathic.
The OMIM ID for lysozyme is *153450. Amyloidogenic variants include Ile56Thr, Asp67His, Trp64Arg, and Phe57Ile, and are usually nonneuropathic.