Your patients Joc and Sophia from two families are both affected with a rare autosome recesive developmental disorder. In family 1, Joe's normal parents are first cousins and Joe has one healthy younger sister. In family 2, Sophia's normal parents are unrelated and Sophia has a healthy younger sister while her elder brother with the disorder died at his teenage. (1) Please draw the two pedigrees (using the standard symbols) (2) Ir Sophia's younger sister will marry her maternal first cousin, please calculate the recurrence risk of their offspring (3) By sequencing, you identified these individuals from two families with mutations in HACEI gene (Family I and 2). Leuk32 has a major effect on the fold of the protein which HACEI encodes. Please describe the mutations that Joe and Sophia inherited from their parents respectively, and explain the possible reasons why Joe and Sophia suffered from the disease. Family KITTCTTCE TEACAG TITGT NM Le te Ln Ge Pe KO I 2 K K S DNA Ami A Originl ITTCICTIACAGTITGT N Les La Ga Ph V DNA Mtioe Asi Ara Joe's parents' genotypes: wt/mut 1, wt/mut 1. Joe's genotype: mut 1/mut 1. Wt indicates wild type allele. Mut I indicates mutation I allele. Fami GAC CTT GTGCAG CAT GTC Ap Le H V 1 150 1 152. 133 154 ACCTGIG EA CAT GIC Ap Le 1 I 1 1s2 TTT ACC CAG TCAGCTGAT CA Phe The C Ser Ala Ap s IT IN SI i TTT ACC GTC MK TGA TOA he The V Se Sup DNA Ami Aci Original Original An Ai ENA ONA A A Mtion Am Ad Sophia's father genotype: wtimut 2. Sophia's mother genotype: wt'mut 3. Sophia's genotype: mut 2/mut 3. Wt indicates wild type allele. Mut 2 or 3 indicate mutation 2 or 3 allele, respectively.